Prevalence of Rare Diseases by Decreasing Prevalence or Cases

Prevalence distribution of rare diseases
200 180 160 140
Orphanet Report Series

Rare Diseases collection
Number of diseases
120 100 80 60 40 20 0 0 5 10 15 20 25 30 35 40 45 50 Estimated prevalence (/100000)
November November 2012 2009 Number 2
Prevalence of rare diseases: Bibliographic data

Listed in order of decreasing prevalence or number of published cases
www.orpha.net
20102206
Methodology
A systematic survey of the literature is being performed in order to provide an estimate of the prevalence of rare diseases in Europe. An updated report will be published regularly and will replace the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made available. Search strategy The search strategy is carried out using several data sources: - Websites: Orphanet, e-medicine, GeneClinics, EMA and OMIM ; - Registres, RARECARE - Medline is consulted using the search algorithm: Disease names AND Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/ abstract] OR Epidemiology[Title/abstract] ; - Medical books, grey literature and reports from experts are also important sources of data. Collected data Prevalence values provided are the mean of the highest and lowest values collected. When prevalence is not documented we calculate it using incidence: - For congenital diseases with birth-onset, prevalence = incidence at birth x (patient life expectancy/ general population life expectancy) ; - For the other rare diseases, prevalence = incidence x rare disease mean duration ; When no prevalence or incidence data are available, the number of cases or families reported in the literature is provided. The ** sign indicates a birth prevalence. It was used when the birth prevalence was the only data available and a prevalence estimate was not possible because of a large variability in the duration of the disease.
NB: Life expectancy of the French population (81 years) is used as the general population life expectancy.
Updated Data New information from available data sources: EMA, new scientific publications, grey literature, expert opinion. Limitation of the study The exact prevalence rate of each rare disease is difficult to assess from the available data sources. There is a low level of consistency between studies, a poor documentation of methods used, confusion between incidence and prevalence, and/or confusion between incidence at birth and life-long incidence. The validity of the published studies is taken for granted and not assessed. It is likely that there is an overestimation for most diseases as the few published prevalence surveys are usually done in regions of higher prevalence and are usually based on hospital data. Therefore, these estimates are an indication of the assumed prevalence but November not be accurate.
For any questions or comments, please contact us: contact.orphanet@inserm.fr
Orphanet Report Series- Prevalence of rare diseases: Bibliographic data - November 2012 - Number 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf
List of diseases or groups of diseases by decreasing prevalence
ORPHA Number 2014 48 858 535 157798 823 648 71529 706 249 98293 618 209893 3303 247 45360 3375 1646 801 33540 768 294 101016 67037 98715 467 226295 209989 545 217071 288 92 2764 70475 1549 226292 60 423 166 216675
Disease or group of diseases Cleft palate Congenital bilateral absence of vas deferens Congenital toxoplasmosis Cutaneous lupus erythematosus Hyperplastic polyposis syndrome Isolated spina bifida Noonan syndrome Obesity due to melanocortin-4 receptor deficiency Patent arterial duct Fibrous dysplasia of bone Hodgkin lymphoma Familial melanoma Congenital isolated thyroxine-binding globulin deficiency Tetralogy of Fallot Arrhythmogenic right ventricular dysplasia Meniere disease Trisomy X Partial chromosome Y deletion Scleroderma Familial Parkinson's disease dementia Familial long QT syndrome Fetal cytomegalovirus syndrome Romano-Ward syndrome Squamous cell carcinoma of head and neck Uveitis Nonacquired combined pituitary hormone deficiency Primary congenital hypothyroidism Non-papillary transitional cell carcinoma of the bladder Follicular lymphoma Renal cell carcinoma Hereditary elliptocytosis Juvenile idiopathic arthritis Osteochondritis dissecans Radiation proctitis Cryptosporidiosis Permanent congenital hypothyroidism Alpha-1 antitrypsin deficiency Malignant hyperthermia Charcot-Marie-Tooth disease Transposition of the great arteries
Estimated prevalence (/100,000) 50 50 50 50 50 50 50 50 50 < 50 46.9 46.8 46 45 43.5 42.5 42.5 42 42 41 40 40 40 < 40 38 37.7 37.5 37 36 35.8 35 35 35 35 34 33.3** 33 33 32.5 32.5
ORPHA Number 791 70578 69 67038 729 442 63443 908 213500 70568 2032 2073 54057 701 1199 145 3002 636 2922 93402 95719 94058 3318 557 3394 90062 52688 2578 90291 95711 70476 228113 85410 1656 1201 130 174590 35122 544 822
Disease or group of diseases Retinitis pigmentosa Adult acute respiratory distress syndrome Amyloidosis B-cell chronic lymphocytic leukemia Polycythemia vera Congenital hypothyroidism Gastric cancer Fragile X syndrome Rare ovarian cancer Post-transplant lymphoproliferative disease Idiopathic pulmonary fibrosis Narcolepsy-cataplexy Thrombotic thrombocytopenic purpura Alopecia universalis Esophageal atresia Hereditary breast and ovarian cancer syndrome Immune thrombocytopenic purpura Neurofibromatosis type 1 Preaxial polydactyly Syndactyly type 1 Thyroid hemiagenesis Neovascular glaucoma Essential thrombocythemia Isolated anorectal malformation Soft tissue sarcoma Acute liver failure Myelodysplastic syndromes MURCS association Systemic sclerosis Congenital hypothyroidism due to developmental anomaly Vernal keratoconjunctivitis Anal fistula Oligoarticular juvenile arthritis Dermatitis herpetiformis Atresia of small intestine Brugada syndrome Congenital hypogonadotropic hypogonadism Congenital sucrase-isomaltase deficiency Diffuse large B-cell lymphoma Hereditary spherocytosis
Estimated prevalence (/100,000) 30.2 30 30 30 30 29 29 28 27.8 26.2 26 26 25.5 25 25 25 25 25 25 25 25 24.4 24 24 23.7 23 22.3 22** 21.5 21.3 21 20.5 20.5 20.2 20 20 20 20 20 20
** Prevalence at birth
Prevalence of rare diseases: Bibliographic data- Listed in order of decreasing prevalence or number of published cases
ORPHA Number 35093 558 567 589 1330 3389 881 182090 1496 73267 69061 704 228019 154 29073 1848 83313 70591 221 732 85445 461 774 1037 519 36258 550 137599 511 163934 1329 2140 2382 83463 94093 797 232 2828 171901 187 95712 214 100092 2542 186 828
Disease or group of diseases Isolated scaphocephaly Marfan syndrome Monosomy 22q11 Myasthenia gravis Partial atrioventricular canal Tuberculosis Turner syndrome Pulmonary arterial hypertension Corpus callosum agenesis - neuronopathy Hypernychthemeral syndrome Idiopathic steroid-sensitive nephrotic syndrome Pemphigus vulgaris Pneumonia caused by serotype O1 Pseudomonas Aeruginosa Familial isolated dilated cardiomyopathy Multiple myeloma Bilateral renal agenesis Boutonneuse fever Chronic thromboembolic pulmonary hypertension Dermatomyositis Polymyositis Secondary amyloidosis Recessive X-linked ichthyosis Rendu-Osler-Weber disease Arthrogryposis multiplex congenita Acute myeloid leukemia Buerger's disease MELAS syndrome Stromal keratitis Maple syrup urine disease Atopic keratoconjunctivitis Complete atrioventricular canal Congenital diaphragmatic hernia Lennox-Gastaut syndrome Microtia Neuroleptic malignant syndrome Sarcoidosis Sickle cell anemia Young adult-onset Parkinsonism Primary cutaneous T-cell lymphoma Citrullinemia Thyroid ectopia Cystinuria Enteropancreatic endocrine tumor Isolated anophthalmia - microphthalmia Primary biliary cirrhosis Stickler syndrome
Estimated prevalence (/100,000) 20 20 20 20 20 20 20 19.5 19 18.5 18 18 18 17.5 17.5 17 17 17 17 17 17 16.6 16.25 16.1 16 16 16 16 15.6 15.1 15** 15 15 15 15 15 15 15 14.9 14.4 14.2 14 14 14 13.5 13.5
ORPHA Number 2162 904 754 70589 44890 586 285 2415 3193 903 388 90050 2368 415 42 660 217074 1866 635 70573 890 652 171 739 700 36205 827 3380 79276 654 67047 717 3286 418 31112 603 233 569 182067 58017 930 3260 35098 65 98292 33475
Disease or group of diseases Holoprosencephaly Williams syndrome Androgen insensitivity syndrome Bronchopulmonary dysplasia Gastrointestinal stromal tumor Cystic fibrosis Ehlers-Danlos syndrome, hypermobility type Lymphatic malformation Supravalvular aortic stenosis Von Willebrand disease Hirschsprung disease Retinopathy of prematurity Gastroschisis Hyperornithinemia-hyperammonemia-homocitrullinuria Medium chain acyl-CoA dehydrogenase deficiency Omphalocele Pancreatic carcinoma Focal dystonia Neuroblastoma Small cell lung cancer Hepatic veno-occlusive disease Multiple endocrine neoplasia type 1 Primary sclerosing cholangitis Prader-Willi syndrome Alopecia totalis Collagenous colitis Stargardt disease Trisomy 18 Acute intermittent porphyria Nephroblastoma 3-methylglutaconic aciduria type 3 Catecholamine-producing tumor Catecholaminergic polymorphic ventricular tachycardia Congenital adrenal hyperplasia Dermatofibrosarcoma protuberans Distal myopathy, Welander type Duane syndrome Familial or sporadic hemiplegic migraine Glial tumor Hairy cell leukemia Idiopathic achalasia Idiopathic hypereosinophilic syndrome Isolated plagiocephaly Leber congenital amaurosis Mastocytosis Meningococcal meningitis
Estimated prevalence (/100,000) 13.4** 13.3 13 13 13 12.6 12.5 12.5 12.5 12.5 12.2** 12.2** 12 12 12 12 12 11.7 11.3 11.2 11 11 11 10.7 10.5 10.5 10.4 10.4** 10.1 10.1 10 10 10 10 10 10 10 10 10 10 10 10 10 10 10 10
ORPHA Number 68411 64740 243 640 3109 2443 137577 397 2416 805 718 1203 99981 761 644 3280 542 137914 513 520 90290 85408 220402 412 448 478 72 3189 55 1172 212 2059 98878 399 1332 716 821 3366 42062 50839 352 57145 900 731 56044 666
Disease or group of diseases Rare bone tumor Recurrent acute pancreatitis 46,XX gonadal dysgenesis Hereditary neuropathy with liability to pressure palsies Mayer-Rokitansky-Kster-Hauser syndrome Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Neonatal hypoxic and ischemic brain injury Giant cell arteritis Congenital primary lymphedema Tuberous sclerosis Isolated Pierre Robin syndrome Duodenal atresia Apnea of prematurity Henoch-Schnlein purpura NARP syndrome Syringomyelia Primary cutaneous lymphoma Choanal atresia Acute lymphoblastic leukemia Acute promyelocytic leukemia CREST syndrome Juvenile rheumatoid factor-negative polyarthritis Limited cutaneous systemic sclerosis Hyperlipidemia type 3 Hemophilia Kallmann syndrome Angelman syndrome Congenital pulmonary valve stenosis Oculocutaneous albinism Autosomal recessive cerebellar ataxia Cystathioninuria Fryns syndrome Hemophilia A Huntington disease Medullary thyroid carcinoma Phenylketonuria Sotos syndrome Isolated trigonocephaly Iminoglycinuria Cat-scratch disease Galactosemia SUNCT syndrome Wegener granulomatosis Autosomal recessive polycystic kidney disease Carcinoma of the gallbladder Osteogenesis imperfecta
Estimated prevalence (/100,000) 10 10 < 10 9 9 9 9 8.9 8.8 8.8 8.75 8.55 8.5 8.5 8.5 8.4 8.3 8.2 8.1 8 8 8 8 7.8 7.7 7.7 7.5 7.2 7.15 7 7 7** 7 7 7 7 7** 6.7 6.68 6.6 6.6 6.6 6.6 6.5 6.5 6.5
ORPHA Number 1885 52759 99892 46724 521 1146 103 683 609 861 553 85438 30391 1941 733 705 1020 819 913 803 766 963 1306 55880 97242 63260 262 90309 469 685 2189 33208 35099 251 668 60015 244 3099 85414 614 1209 43 89936 280062 3378 88629
Disease or group of diseases Ectopia lentis syndrome Vasculitis ACTH-dependent Cushing syndrome Cerebral arteriovenous fistula Chronic myeloid leukemia Digitotalar dysmorphism Genetic optic atrophy Progressive supranuclear palsy Tibial muscular dystrophy Treacher-Collins syndrome Cushing syndrome Enthesitis-related arthritis Biliary atresia Juvenile absence epilepsy Familial adenomatous polyposis Pendred syndrome Early-onset autosomal dominant Alzheimer disease Smith-Magenis syndrome Zollinger-Ellison syndrome Amyotrophic lateral sclerosis Hemolytic anemia due to red cell pyruvate kinase deficiency Acromegaly Buschke-Ollendorff syndrome Chondrosarcoma Congenital muscular dystrophy Craniorachischisis Duchenne and Becker muscular dystrophy Ehlers-Danlos syndrome type 1 Hereditary fructose intolerance Hereditary spastic paraplegia Hydrolethalus Idiopathic hypersomnia Isolated brachycephaly Multiple epiphyseal dysplasia Osteosarcoma Parietal foramina Primary ciliary dyskinesia Rheumatic fever Systemic-onset juvenile idiopathic arthritis Thomsen and Becker disease Tricuspid atresia X-linked adrenoleukodystrophy X-linked hypophosphatemia Calciphylaxis Trisomy 13 Tritanopia
Estimated prevalence (/100,000) 6.4 6.3 6 6 6 6 6 6 6 6 5.9 5.7 5.6 5.6 5.5 5.5 5.3 5.3 5.3 5.2 5.1 5 5 5 5 5 5 5 5 5 5** 5 5 5 5 5 5 5 5 5 5 5 5 <5 4.8** 4.8
ORPHA Number 946 2023 281 102 15 1928 273 1243 2932 104 85436 85435 2130 778 915 1034 1572 278 96253 79140 220393 70482 269 95716 2116 2157 52416 101330 79126 1070 267 97245 98848 809 35 98896 3451 3465 97230 95713 36414 287 374 2655 95720 886
Disease or group of diseases Acrocephalosyndactyly Malignant fibrous histiocytoma Monosomy 5p Multiple system atrophy Achondroplasia Congenital lobar emphysema Steinert myotonic dystrophy Best disease Chronic inflammatory demyelinating polyneuropathy Leber hereditary optic neuropathy Juvenile psoriatic arthritis Juvenile rheumatoid factor-positive polyarthritis Hemimelia Rett syndrome Aarskog-Scott syndrome Amniotic bands Common variable immunodeficiency Corticobasal degeneration Cushing disease Cutaneous neuroendocrine carcinoma Diffuse cutaneous systemic sclerosis Esophageal carcinoma Facioscapulohumeral dystrophy Familial thyroid dyshormonogenesis Hartnup syndrome Histidinemia Mantle cell lymphoma Porphyria cutanea tarda Acute interstitial pneumonia Anisakiasis Autosomal recessive limb girdle muscular dystrophy type 2A Congenital myopathy Indolent systemic mastocytosis Mixed connective tissue disease Propionic acidemia Duchenne muscular dystrophy West syndrome Worster-Drought syndrome Solar urticaria Athyreosis Brain stem tumor Ehlers-Danlos syndrome, classic type Goldenhar syndrome Thanatophoric dysplasia Thyroid hypoplasia Usher syndrome
Estimated prevalence (/100,000) 4.6 4.6 4.6 4.6 4.5 4.5 4.5 4.4 4.4 4.3 4.2 4.2 4.15 4.15 4 4** 4 4 4 4 4 4 4 4 4 4 4 4 3.8 3.8 3.8 3.8 3.8 3.8 3.75 3.7 3.7** 3.7 3.6 3.5 3.5 3.5 3.5 3.5** 3.5 3.5
ORPHA Number 792 2103 117 104008 49382 75377 258 2182 429 653 2901 818 2467 905 1048 2573 926 98916 50251 767 36234 136 282 673 48372 168803 70 794 39812 506 824 94 99 983 107 703 1872 304 75249 348 358 450 564 645 2337 97927
Disease or group of diseases X-linked retinoschisis Guillain-Barr syndrome Behcet disease Short bowel syndrome Achromatopsia Central areolar choroidal dystrophy Congenital muscular dystrophy type 1A Hydrocephalus with stenosis of aqueduct of Sylvius Hypochondroplasia Multiple endocrine neoplasia type 2 Parsonage-Turner syndrome Smith-Lemli-Opitz syndrome Systemic mastocytosis Wilson disease Isolated anencephaly/exencephaly Moyamoya disease Acatalasemia Acute inflammatory demyelinating polyradiculoneuropathy Mesothelioma Polyarteritis nodosa Bacterial toxic-shock syndrome CADASIL syndrome Frontotemporal dementia Malaria Nodular regenerative hyperplasia of the liver Primary peritoneal tumor Proximal spinal muscular atrophy Saethre-Chotzen syndrome Graft versus host disease Leigh syndrome Myelofibrosis with myeloid metaplasia Astrocytoma Autosomal dominant cerebellar ataxia Bilateral anorchia BOR syndrome Bullous pemphigoid Cone rod dystrophy Epidermolysis bullosa simplex Familial isolated restrictive cardiomyopathy Fructose-1,6-bisphosphatase deficiency Gitelman syndrome Heterotaxia Meckel syndrome Niemann-Pick disease Non-epidermolytic palmoplantar keratoderma Peripheral resistance to thyroid hormones
Estimated prevalence (/100,000) 3.5 3.45 3.4 3.4 3.33 3.33 3.3 3.3 3.3 3.3 3.3 3.3 3.3 3.3 3.2** 3.16 3.1 3.1 3.1 3.07 3 3 3 3 3 3 3 3 2.76 2.75** 2.7 2.5 2.5 2.5 2.5 2.5 2.5 2.5 2.5 2.5 2.5 2.5 2.5 2.5** 2.5 2.5 ** Prevalence at birth
ORPHA Number 100070 758 70588 3440 319 6 3095 2869 53693 33276 70567 217 63 98841 2357 909 168782 190 657 54595 207 93323 95 355 98879 2345 480 389 626 2369 321 2614 385 1699 157835 2911 3129 185 3346 231178 888 280 54 2017 199 27 892
Disease or group of diseases Progressive non-fluent aphasia Pseudoxanthoma elasticum Meconium aspiration syndrome Waardenburg syndrome Ewing sarcoma Isolated 3-methylcrotonyl-CoA carboxylase deficiency Atypical Rett syndrome Peutz-Jeghers syndrome GRACILE syndrome Kaposi's sarcoma Cholangiocarcinoma Isolated Dandy-Walker malformation Alport syndrome Anaplastic large cell lymphoma Bronchogenic cyst Cerebrotendinous xanthomatosis Childhood disintegrative disorder Coats disease Congenital isolated hyperinsulinism Craniopharyngioma Crouzon disease Fibular hemimelia Friedreich ataxia Gaucher disease Hemophilia B Isolated Klippel-Feil syndrome Kearns-Sayre syndrome Langerhans cell histiocytosis Large congenital melanocytic nevus Limb body wall complex Multiple osteochondromas Nail-patella syndrome Neurodegeneration with brain iron accumulation Non-distal trisomy 12p Paroxysmal hemicrania Poland syndrome Sarcosinemia Scimitar syndrome Tracheal agenesis Usher syndrome type 2 Van Der Woude syndrome Wolf-Hirschhorn syndrome X-linked recessive ocular albinism Sternal cleft Cornelia de Lange syndrome Vitamin B12-unresponsive methylmalonic acidemia Von Hippel-Lindau disease
Estimated prevalence (/100,000) 2.5 2.5 2.44 2.4 2.33 2.25 2.22 2.2 2.12** 2.11 2.1 2.1** 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2** 2 2 2 2** 2 2 2 2 2** 2 2 2** 2 <2 1.9 1.9 1.9
ORPHA Number 53271 68 77 899 79241 481 470 750 64747 799 81 131 180 95161 192 137 218 2019 365 168956 422 549 168811 641 71211 35689 98755 98756 98757 284400 512 83418 52 250923 49041 195 634 168491 579 231169 87 1880 2209 2481 83330 829
Disease or group of diseases Muenke syndrome Amoebiasis due to free-living amoebae Aniridia Walker-Warburg syndrome Biotinidase deficiency Kennedy disease Lysinuric protein intolerance Pseudoachondroplasia X-linked Charcot-Marie-Tooth disease Schizencephaly Antisynthetase syndrome Budd-Chiari syndrome Choroideremia Chronic hepatic porphyria Coffin-Lowry syndrome Congenital disorder of glycosylation Darier disease Femur-fibula-ulna complex Glycogen storage disease due to acid maltase deficiency Hypereosinophilic syndromes Idiopathic and/or familial pulmonary arterial hypertension Legionellosis Malignant peritoneal mesothelioma Multifocal motor neuropathy with conduction block Neuromyelitis optica Primary lateral sclerosis Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 3 Small cell carcinoma of the bladder Metachromatic leukodystrophy Proximal spinal muscular atrophy type 2 Alagille syndrome Isolated aniridia Retroperitoneal fibrosis Cat-eye syndrome Netherton syndrome Late infantile neuronal ceroid lipofuscinosis Mucopolysaccharidosis type 1 Usher syndrome type 1 Apert syndrome Ebstein malformation Maternal hyperphenylalaninemia Neurocutaneous melanocytosis Proximal spinal muscular atrophy type 1 Adult Still's disease
Estimated prevalence (/100,000) 1.8** 1.75 1.75 1.65** 1.6 1.6 1.6 1.6 1.6 1.54 1.5 1.5 1.5 1.5 1.5 1.5** 1.5 1.5 1.5 1.5 1.5 1.5 1.5 1.5 1.5 1.5 1.5 1.5 1.5 < 1.5 1.42 1.42 1.4 1.38 1.38 1.35 1.35 1.3 1.3 1.3 1.25 1.25 1.25 1.25 1.25 1.23
ORPHA Number 628 664 46485 2322 140874 97231 581 2440 655 790 1557 67043 1501 53 100 2134 353 396 183 85 95715 290 1552 286 296 360 377 1177 88673 91378 189 392 681 33 475 43393 5 592 98969 180242 91138 607 647 194 270
Disease or group of diseases Diastrophic dwarfism Ornithine transcarbamylase deficiency Superficial pemphigus Kabuki syndrome Joubert syndrome and related disorders Ligneous conjunctivitis Mucopolysaccharidosis type 3 Split hand-split foot malformation Autosomal recessive medullary cystic kidney disease Retinoblastoma Cutis verticis gyrata - intellectual deficit Acanthamoeba keratitis Adrenocortical carcinoma Albers-Schnberg osteopetrosis Ataxia-telangiectasia Atypical hemolytic uremic syndrome Autosomal recessive limb-girdle muscular dystrophy type 2C Chronic hiccup Churg-Strauss syndrome Congenital dyserythropoietic anemia Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies Congenital Rubella syndrome Currarino triad Ehlers-Danlos syndrome, vascular type Enchondromatosis Glioblastoma Gorlin syndrome Harding ataxia Hepatocellular carcinoma Hereditary angioedema Hidrotic ectodermal dysplasia Holt-Oram syndrome Hypokalemic periodic paralysis Isovaleric acidemia Joubert syndrome Lambert-Eaton myasthenic syndrome Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Macrophagic myofasciitis Macular corneal dystrophy Malignant tumor of fallopian tube Mixed cryoglobulinemia Nemaline myopathy Nijmegen breakage syndrome Ocular coloboma Oculopharyngeal muscular dystrophy
Estimated prevalence (/100,000) 1.2 1.2 1.2 1.16 1.1 1.1 1.1 1.1 1.05 1.05 1.02 1 1 1 1 1 1 1 1 1 1 1** 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1** 1 1
ORPHA Number 710 606 26790 441 177 783 3169 254 86872 945 85447 411 90970 77259 79278 48162 551 646 110 147 1461 79361 263 447 169793 3312 667 2137 590 66646 487 796 665 303 752 375 79168 367 169799 169796 580 240103 93473 3463 538
Disease or group of diseases Pfeiffer syndrome Proximal myotonic myopathy Pseudomyxoma peritonei Pure autonomic failure Rhizomelic chondrodysplasia punctata Rubinstein-Taybi syndrome Sirenomelia Spondylometaphyseal dysplasia T-cell large granular lymphocyte leukemia Acalvaria Familial amyloid polyneuropathy Hyperlipoproteinemia type 1 Primary lipodystrophy Gaucher disease type 1 Erythropoietic protoporphyria Lewis-Sumner syndrome MERRF syndrome Niemann-Pick disease type C Bardet-Biedl syndrome Carbamoylphosphate synthetase deficiency Criss-cross heart Inherited epidermolysis bullosa Limb-girdle muscular dystrophy Paroxysmal nocturnal hemoglobinuria Severe hemophilia B Thalidomide embryopathy Autosomal recessive malignant osteopetrosis Chronic autoimmune hepatitis Congenital myasthenic syndromes Cutaneous mastocytosis Krabbe disease Sandhoff disease Albright hereditary osteodystrophy Dystrophic epidermolysis bullosa 46,XY disorder of sex development due to 17-betahydroxysteroid dehydrogenase 3 deficiency Goodpasture syndrome Disorder of bile acid synthesis Glycogen storage disease due to glycogen branching enzyme deficiency Mild hemophilia B Moderately severe hemophilia B Mucopolysaccharidosis type 2 Progressive supranuclear palsy - corticobasal syndrome Hurler syndrome Wolfram syndrome Lymphangioleiomyomatosis
Estimated prevalence (/100,000) 1 1 1 1 1 1 1** 1 1 < 1** <1 <1 <1 0.94 0.9 0.9 0.9 0.85 0.8 0.8 0.8 0.8 0.8 0.8 0.8 0.77** 0.75** 0.75 0.75 0.75 0.75** 0.75 0.72 0.7 0.68 0.64 0.6 0.6 0.6 0.6 0.6 < 0.6 0.57 0.57 0.56
ORPHA Number 1335 562 93284 272 449 56 782 848 122 35909 213 682 223 637 661 35173 611 101 79264 23 62 219 201 3287 902 47 169808 169802 857 486 394 256 312 25 88 313 582 77293 42738 816 510 119 140 181
Disease or group of diseases Cantrell pentalogy McCune-Albright syndrome Spondyloepiphyseal dysplasia tarda Congenital muscular dystrophy, Fukuyama type Hepatoblastoma Alkaptonuria Axenfeld-Rieger syndrome Beta-thalassemia Birt-Hogg-Dube syndrome Combined deficiency of factor V and factor VIII Cystinosis Hyperkalemic periodic paralysis Nephrogenic diabetes insipidus Neurofibromatosis type 2 Ondine syndrome X-linked dominant chondrodysplasia punctata Inclusion body myositis Dentatorubral-pallidoluysian atrophy Juvenile neuronal ceroid lipofuscinosis Argininosuccinic aciduria Autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2F Cowden syndrome Takayasu arteritis Werner syndrome X-linked agammaglobulinemia Mild hemophilia A Severe hemophilia A Townes-Brocks syndrome Autosomal dominant severe congenital neutropenia Classical homocystinuria Early onset torsion dystonia Epidermolytic ichthyosis Glutaric acidemia type 1 Idiopathic aplastic anemia Lamellar ichthyosis Mucopolysaccharidosis type 4 Niemann-Pick disease type B Severe congenital neutropenia Sjgren-Larsson syndrome Lesch-Nyhan syndrome Autosomal recessive limb-girdle muscular dystrophy type 2E Campomelic dysplasia Christ-Siemens-Touraine syndrome
Estimated prevalence (/100,000) 0.55** 0.55 0.55 0.54 0.54 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5** 0.5 0.49 0.48 0.46 0.45 0.45 0.45 0.45 0.45 0.45 0.45 0.44 0.44 0.42 0.4** 0.4 0.4 0.4 0.4 0.4 0.4 0.4 0.4 0.4 0.4 0.38 0.35
ORPHA Number 728 94068 124 83420 2299 1300 216694 255 261 84 676 90647 531 3004 79269 845 56970 143 75233 45448 83419 528 327 77292 678 702 2884 3000 99867 509 93476 111 169805 277 37 98850 379 328 98249 209916 745 743
Disease or group of diseases Relapsing polychondritis Spondyloepiphyseal dysplasia congenita Blackfan-Diamond disease Proximal spinal muscular atrophy type 4 Aortic arch interruption Autosomal dominant popliteal pterygium syndrome Congenitally corrected transposition of the great arteries Dopa-responsive dystonia Emery-Dreifuss muscular dystrophy Fanconi anemia Hereditary chronic pancreatitis Jervell and Lange-Nielsen syndrome Miller-Dieker syndrome Mirror polydactyly - vertebral segmentation - limbs defects Sanfilippo syndrome type A Tay-Sachs disease Transmissible spongiform encephalopathies Parathyroid carcinoma Wolman disease Miyoshi myopathy Proximal spinal muscular atrophy type 3 Berardinelli-Seip congenital lipodystrophy Congenital factor VII deficiency Niemann-Pick disease type A Papillon-Lefvre syndrome Pelizaeus-Merzbacher disease Piebaldism Testotoxicosis Thymoma Leptospirosis Hurler-Scheie syndrome Barth syndrome Moderately severe hemophilia A
Estimated prevalence (/100,000) 0.35 0.34 0.32 0.32 0.3** 0.3 0.3** 0.3 0.3 0.3 0.3 0.3 0.3 0.3** 0.3 0.3** 0.3 0.28 0.28** 0.26 0.26 0.25 0.25 0.25** 0.25 0.25 0.25 0.25 0.25 0.24 0.23 0.22 0.22
Severe combined immunodeficiency due to adenosine 0.22 deaminase deficiency Acrodermatitis enteropathica, zinc deficiency type Aggressive systemic mastocytosis Chronic granulomatous disease Congenital factor X deficiency Ehlers-Danlos syndrome Extraskeletal myxoid chondrosarcoma 0.2 0.2 0.2 0.2 0.2 0.2
Hereditary thrombophilia due to congenital protein C 0.2 deficiency Hereditary thrombophilia due to congenital protein S 0.2 deficiency Hyperoxaluria Incontinentia pigmenti 0.2 0.2
0.35 0.35 416 464
ORPHA Number 407 474 633 99870 224 534 93598 93474 95455 308 3162 99874 1456 280219 583 335 79430 576 2770 3006 906 64 138 763 112 51577 64741 34149 48818 73274 514 98918 98917 209335 61 142 209341 31824 326 329 204 2686 602 1775
Disease or group of diseases Isolated nonketotic hyperglycinemia Jeune syndrome Laron syndrome Letterer-Siwe disease Neonatal diabetes mellitus Oculocerebrorenal syndrome Primary hyperoxaluria type 1 Scheie syndrome Toxic epidermal necrolysis Unverricht-Lundborg disease Sezary's syndrome Adult pulmonary Langerhans cell histiocytosis Atypical coarctation of aorta Pelizaeus-Merzbacher disease, classic form Mucopolysaccharidosis type 6 Congenital fibrinogen deficiency Hermansky-Pudlak syndrome Mucolipidosis type 2 Nasu-Hakola disease Pyridoxine-dependent epilepsy Wiskott-Aldrich syndrome Alstrm syndrome CHARGE syndrome Pycnodysostosis Bartter syndrome Lissencephaly type 2 Pulmonary blastoma
Estimated prevalence (/100,000) 0.2 0.2 0.2 0.2 0.2 0.2 0.2 0.2 0.2 0.2 0.18 0.17 0.17** 0.17 0.16** 0.15 0.15 0.15** 0.15 0.15 0.15 0.14 0.14 0.13 0.12 0.12 0.12
ORPHA Number 1959 47045 2078 747 86834 137839 508 225 298 773 3156 93314 3198 3329 93322 910 1018 2442 501 50 337 305 748 1267 178 325 331 1516 77261 2788 882 99718 69087 34520 86882 280210 280224 726 98810 812 87876 85212 77260 740 772
Disease or group of diseases Evans syndrome Familial cold urticaria Geroderma osteodysplastica Idiopathic pulmonary alveolar proteinosis Juvenile myelomonocytic leukemia Lemierre syndrome Leprechaunism Maternally inherited diabetes and deafness Mitochondrial neurogastrointestinal encephalomyopathy Refsum disease Senior-Loken syndrome Spondylometaphyseal dysplasia, Kozlowski type Stiff person syndrome Tibial aplasia - ectrodactyly Tibial hemimelia Xeroderma pigmentosum X-linked diffuse leiomyomatosis - Alport syndrome X-linked lymphoproliferative disease Lafora disease Aicardi syndrome Fibrodysplasia ossificans progressiva Junctional epidermolysis bullosa Mendelian susceptibility to mycobacterial diseases Botulism Chordoma Congenital factor II deficiency Congenital factor XIII deficiency Craniofacial dyssynostosis Gaucher disease type 3 Osteoporosis - pseudoglioma Tyrosinemia type 1 Leber 'plus' disease Naegeli-Franceschetti-Jadassohn syndrome Congenital muscular dystrophy with integrin deficiency Hepatosplenic T-cell lymphoma Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher disease, transitional form Alpers syndrome Paroxysmal non-kinesigenic dyskinesia Sialidosis type 1 Sialidosis type 2 Fetal Gaucher disease Gaucher disease type 2 Hutchinson-Gilford progeria syndrome Infantile Refsum disease
Estimated prevalence (/100,000) 0.1 0.1 0.1 0.1 0.1 0.1 0.1** 0.1 0.1 0.1 0.1 0.1 0.1 0.1 0.1 0.1 0.1 0.1 < 0.1 0.06 0.06 0.06 0.059 0.05 0.05 0.05 0.05 0.05 0.05 0.05 0.05 0.04 0.035 0.03 0.03 0.03 0.03 0.025 0.02 0.02** 0.02** 0.01 0.01 0.005 0.005
Autosomal dominant medullary cystic kidney disease with 0.11 or without hyperuricemia Aceruloplasminemia Acquired hemophilia Acute monoblastic leukemia Acute motor axonal neuropathy Acute motor-sensory axonal neuropathy 0.1 0.1 0.1 0.1 0.1
Adult-onset proximal spinal muscular atrophy, autosomal 0.1 dominant Alpha-mannosidosis Anaplastic thyroid carcinoma 0.1 0.1
Childhood-onset proximal spinal muscular atrophy, 0.1 autosomal dominant Colchicine poisoning Congenital factor V deficiency Congenital factor XI deficiency Creutzfeldt-Jakob disease Cyclic neutropenia Distal myopathy, Nonaka type Dyskeratosis congenita 0.1 0.1 0.1 0.1 0.1 0.1 0.1
10
List of diseases or groups of diseases by decreasing number of published cases or families

1- Number of published cases
Number of published cases 1200 cases 1000 cases 1000 cases 1000 cases < 1000 cases > 800 cases 800 cases > 700 cases > 700 cases > 600 cases 550 cases 513 cases > 500 cases > 500 cases 500 cases 500 cases 500 cases > 400 cases > 400 cases 400 cases 391 cases 350 cases 350 cases < 350 cases > 300 cases 300 cases 300 cases 300 cases 300 cases 300 cases 300 cases 300 cases 300 cases 300 cases 300 cases > 280 cases 280 cases > 260 cases 250 cases 250 cases 65285 587 2796 1059 79277 66630 317 679 565 48652 1063 45 1328 191 1467 3071 3165 35710 1986 73 343 482 500 33108 559 744 97360 811 48377 1980 36412 1598 2152 139436 75563 Number of published cases 250 cases < 250 cases 248 cases 243 cases 230 cases 220 cases 205 cases 204 cases > 200 cases > 200 cases > 200 cases > 200 cases > 200 cases > 200 cases > 200 cases > 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases 200 cases < 200 cases < 200 cases < 200 cases < 200 cases < 200 cases < 200 cases
ORPHA Number 1957 2346 2309 3452 284 83312 1917 556 79318 83593 1764 55881 26 2138 79282 69077 158014 160 35125 813 238606 22 35687 2968 157 99147 58 1556 2348 2092 35858 2485 570 649 2909 530 2070 2778 1652 163634
Disease or group of diseases Esthesioneuroblastoma Angio-osteohypertrophic syndrome Pachyonychia congenita Whipple disease Alveolar echinococcosis Rickettsialpox Fetal methylmercury syndrome Malakoplakia PMM2-CDG syndrome Western equine encephalitis Familial dysautonomia Adamantinoma Methylmalonic acidemia with homocystinuria Ovotesticular disorder of sex development Methylmalonic acidemia with homocystinuria, type cblC Rhabdoid tumor Sinus histiocytosis with massive lymphadenopathy Castleman disease Epidermal nevus syndrome Silver-Russell syndrome Primary orthostatic tremor 4-hydroxybutyric aciduria Erdheim-Chester disease Leukocyte adhesion deficiency Carnitine palmitoyl transferase II deficiency Acquired Von Willebrand syndrome Alexander disease Cutis marmorata telangiectatica congenita Familial partial lipodystrophy, Dunnigan type Focal dermal hypoplasia Grsbeck-Imerslund disease Melorheostosis Moebius syndrome Norrie disease Rothmund-Thomson syndrome Lipoid proteinosis Eosinophilic gastroenteritis Juvenile chronic recurrent multifocal osteomyelitis Dent disease Maffucci syndrome
ORPHA Number 79087 53035 13 2710 2241
Disease or group of diseases Partial acquired lipodystrophy Caroli disease 6-pyruvoyl-tetrahydropterin synthase deficiency Oculodentodigital dysplasia Megacystis-microcolon-intestinal hypoperistalsis syndrome Lhermitte-Duclos disease Muir-Torre syndrome Pachydermoperiostosis Blue rubber bleb nevus Congenital erythropoietic porphyria Congenital pseudoarthrosis of clavicle Erythrokeratodermia variabilis Malignant atrophic papulosis Menkes disease Monosomy 22q13 Tufted angioma Adenosine monophosphate deaminase deficiency Camurati-Engelmann disease Cockayne syndrome Cogan syndrome Costello syndrome Eosinophilic fasciitis Glucose-galactose malabsorption Gollop-Wolfgang complex Gorham-Stout disease Hyperimmunoglobulinemia D with periodic fever Kimura disease LEOPARD syndrome Lethal multiple pterygium syndrome Marinesco-Sjgren syndrome Proteus syndrome Robinow syndrome Shwachman-Diamond syndrome Subcorneal pustular dermatosis Bilateral striopallidodentate calcinosis Hypocomplementemic leucocytoclasic vasculitis Monosomy 18p Mowat-Wilson syndrome Multicentric reticulohistiocytosis X-linked sideroblastic anemia
ORPHA Number 28 254509 1475 2330 1459 847 1359 137867 35069 199318 1340 220 235 289 2052 3467 3265 2343 2308 59306 3103 188 28378 135 166113 113 90003 83450 79102 226 3400 3449 83453 650 51 60040 2576 2088 86909 932 46487 79086 125 73256 2414 2930
Disease or group of diseases Vitamin B12-responsive methylmalonic acidemia Iatrogenic botulism Renal coloboma syndrome Kasabach-Merritt syndrome Celiac disease, epilepsy and cerebral calcification syndrome Alpha thalassemia - X-linked intellectual deficit Carney complex Madras motor neuron disease Infantile neuroaxonal dystrophy 15q13.3 microdeletion syndrome Cardiofaciocutaneous syndrome Denys-Drash syndrome Dubowitz syndrome Ellis Van Creveld syndrome Fraser syndrome Hereditary xanthinuria Humeroradial synostosis Isolated cloverleaf skull syndrome Jacobsen syndrome McLeod neuroacanthocytosis syndrome Roberts syndrome Systemic capillary leak syndrome Tyrosinemia type 2 CACH syndrome Bazex syndrome Bazex-Dupr-Christol syndrome Inflammatory pseudotumor of the liver Regional odontodysplasia Thyrotoxic periodic paralysis Dihydropteridine reductase deficiency Aorto-ventricular tunnel Weill-Marchesani syndrome Vulvovaginal gingival syndrome LCAT deficiency Aicardi-Goutieres syndrome Macrocephaly - capillary malformation MULIBREY nanism Glycogen storage disease due to GLUT2 deficiency Myoclonic epilepsy of infancy Achondrogenesis Acquired epidermolysis bullosa Acquired generalized lipodystrophy Bloom syndrome Central neurocytoma Congenital pulmonary lymphangiectasia Cronkhite-Canada syndrome
Number of published cases 192 cases > 180 cases 180 cases > 175 cases 170 cases 168 cases 160 cases 154 cases > 150 cases 150 cases 150 cases 150 cases 150 cases 150 cases 150 cases 150 cases 150 cases 150 cases 150 cases 150 cases < 150 cases < 150 cases < 150 cases 148 cases 145 cases 143 cases 143 cases 139 cases 139 cases 134 cases 130 cases 128 cases 127 cases 125 cases 120 cases 116 cases 115 cases 112 cases 106 cases > 100 cases > 100 cases > 100 cases > 100 cases > 100 cases > 100 cases > 100 cases
ORPHA Number 209 291 724 477 578 2704 1929 373 3243 77258 10 3261 503 3107 274 610 139411 3282 1451 193 48431 2053 349 380 86813 572 70593 981 2908 91136 446 2780 672 42775 75326 37748 800 808 869 2697 89937 1507 97229 75840 94087 833
Disease or group of diseases Cutis laxa Fetal varicella syndrome Idiopathic acute eosinophilic pneumonia KID syndrome Mucolipidosis type 4 Ochoa syndrome Rasmussen subacute encephalitis Simpson-Golabi-Behmel syndrome Sweet syndrome Trichorhinophalangeal syndrome type 1 and 3 48,XXYY syndrome Autoimmune lymphoproliferative syndrome Autosomal dominant Larsen syndrome Autosomal dominant Robinow syndrome Bernard-Soulier syndrome Bethlem myopathy Carney triad Chaotic atrial tachycardia CINCA syndrome Cohen syndrome Congenital cataracts - facial dysmorphism - neuropathy Freeman-Sheldon syndrome Fucosidosis Greig cephalopolysyndactyly syndrome Helicoid peripapillary chorioretinal degeneration Immunodeficiency by defective expression of HLA class 2 Immunodeficiency due to selective anti-polysaccharide antibody deficiency Internal carotid agenesis Kindler syndrome Neonatal hemochromatosis Osteopathia striata - cranial sclerosis Pallister-Hall syndrome PHACE syndrome Retinal arteries tortuosity Schnitzler syndrome Schwartz-Jampel syndrome Seckel syndrome Triple A syndrome Arthrogryposis - renal dysfunction - cholestasis Autosomal dominant hypophosphatemic rickets Autosomal recessive Robinow syndrome Brown-Vialetto-van Laere syndrome Congenital muscular dystrophy, Ullrich type Cytophagic histiocytic panniculitis Encephalopathy due to sulfite oxidase deficiency
Number of published cases > 100 cases > 100 cases > 100 cases > 100 cases > 100 cases > 100 cases > 100 cases > 100 cases > 100 cases > 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases 100 cases < 100 cases < 100 cases < 100 cases < 100 cases < 100 cases < 100 cases < 100 cases
Monoclonal Ig light chain-associated Fanconi syndrome 100 cases
12
ORPHA Number 2342 2108 457 2222 2478 139380 99015 838 3347 71276 245 59 1934 71277 34587 3403 526 2635 901 3342 98770 1393 622 3022 31150 46489 1522 2006 756 1442 2123 32 163 3242 63455 2221 239 721 381 134 2671 677 699 158029 3338 79310
Disease or group of diseases Haim-Munk syndrome Hallermann-Streiff-Franois syndrome Harlequin ichthyosis Hypertrichosis lanuginosa congenita Megalencephalic leukoencephalopathy with subcortical cysts Recessive hereditary methemoglobinemia type 2 Spastic paraplegia type 2 Susac syndrome Tracheobronchomegaly Silent sinus syndrome Acrofacial dysostosis, Nager type Allan-Herndon-Dudley syndrome Early infantile epileptic encephalopathy Encephalopathy due to GLUT1 deficiency Glycogen storage disease due to LAMP-2 deficiency Uhl anomaly Liddle syndrome Metatropic dysplasia type 1 Wells syndrome Arterial tortuosity syndrome Spinocerebellar ataxia type 16 Cerebro-costo-mandibular syndrome Homocystinuria without methylmalonic aciduria Rapp-Hodgkin syndrome Tangier disease Bullous systemic lupus erythematosus Craniometaphyseal dysplasia Median cleft lip/mandibule Pseudohypoaldosteronism type 1 Ring chromosome 18 Diffuse neonatal hemangiomatosis Glutathione synthetase deficiency Hereditary hyperferritinemia with congenital cataracts Renpenning syndrome Paraneoplastic pemphigus Acquired hypertrichosis lanuginosa Dyggve-Melchior-Clausen disease Gray platelet syndrome Griscelli disease Ketoacidosis due to betaketothiolase deficiency Neu-Laxova syndrome Pancreatoblastoma Pearson syndrome Sea-blue histiocytosis Toriello-Carey syndrome Vitamin B12-responsive methylmalonic acidemia type cblA
Number of published cases < 100 cases < 100 cases < 100 cases < 100 cases < 100 cases < 100 cases < 100 cases < 100 cases < 100 cases 98 cases 90 cases 89 cases 88 cases 84 cases 84 cases 84 cases 80 cases 80 cases 80 cases < 80 cases < 80 cases 75 cases 73 cases 72 cases > 70 cases 70 cases 70 cases 70 cases 70 cases 70 cases < 70 cases 65 cases > 64 cases 64 cases > 60 cases 60 cases 60 cases 60 cases 60 cases 60 cases 60 cases 60 cases 60 cases 60 cases 60 cases 60 cases
ORPHA Number 210122 3411 1667 2332 79320 88644 826 57782 79099 178509 382 93109 347 2136 2484 1444 40 955 46 1253 71518 1414 361 48918 712 1573 2268 2028 2801 585 165 1125 75382 2785 2805 709 2896 742 59315 1440 1830 936 171929 897 63269 1997
Disease or group of diseases Congenital alveolar capillary dysplasia Double uterus - hemivagina - renal agenesis Wolcott-Rallison syndrome KBG syndrome ALG6-CDG syndrome Autosomal recessive ataxia, Beauce type Sporotrichosis Mazabraud syndrome Interstitial granulomatous dermatitis with arthritis Perry syndrome Guanidinoacetate methyltransferase deficiency Congenital megacalycosis Frasier syndrome Hennekam syndrome Osteodysplasty, Melnick-Needles type Ring chromosome 20 Acromesomelic dysplasia, Maroteaux type Acroosteolysis dominant type Adenylosuccinate lyase deficiency Ascher syndrome Benign paroxysmal torticollis of infancy Cholestasis - lymphedema Familial glucocorticoid deficiency Focal myositis Hemolytic anemia due to glucophosphate isomerase deficiency Hypotrichosis with juvenile macular degeneration ICF syndrome Juvenile hyaline fibromatosis Juvenile Paget's disease Multiple sulfatase deficiency Neutral lipid storage disease Ocular motor apraxia, Cogan type Oguchi disease Osteopetrosis with renal tubular acidosis Partial pancreatic agenesis Peters-plus syndrome Pitt-Hopkins syndrome Prolidase deficiency Rhombencephalosynapsis Ring chromosome 14 Schimke immuno-osseous dysplasia Succinic acidemia Trisomy 10p Waardenburg-Shah syndrome Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Blepharo-cheilo-odontic syndrome
Number of published cases < 60 cases < 60 cases < 60 cases 59 cases 58 cases 57 cases 55 cases 54 cases 53 cases 53 cases 52 cases > 50 cases > 50 cases > 50 cases > 50 cases > 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases 50 cases < 50 cases < 50 cases
13
ORPHA Number 1297 75234 86816 85136 3231 1902 1305 1118 2044 97234 53540 33111 99872 989 2556 574 2462 91496 208513 868 54251 2897 1509 52368 209932 2396 1270 168606 70594 2554 1052 1425 2273 2616 1023 1810 108 65759 1465 96148 96102 1745 2065 1923 2882
Disease or group of diseases Branchio-oculo-facial syndrome Cholesteryl ester storage disease Congenital analbuminemia Cystic leukoencephalopathy without megalencephaly Deafness - onychodystrophy Ehrlichiosis Feingold syndrome Fibular aplasia - ectrodactyly Floating-Harbor syndrome Glycogen storage disease due to phosphoglycerate mutase deficiency Goldmann-Favre syndrome Granulomatous slack skin Hashimoto-Pritzker syndrome Hypoglossia - hypodactyly MIDAS syndrome Monosomy 21 Shprintzen-Goldberg syndrome Snowflake vitreoretinal degeneration Spinocerebellar ataxia type 29 Triose phosphate-isomerase deficiency Corticosteroid-sensitive aseptic abscesses Pityriasis rubra pilaris Coxo-podo-patellar syndrome Mohr-Tranebjaerg syndrome Cone dystrophy with supernormal rod response Encephalocraniocutaneous lipomatosis Bowen-Conradi syndrome Seborrhea-like dermatitis with psoriasiform elements Dopa responsive dystonia due to sepiapterin reductase deficiency Ear-patella-short stature syndrome Mosaic variegated aneuploidy syndrome Desbuquois syndrome Ichthyosis follicularis - alopecia - photophobia 3M syndrome Ambras syndrome Autosomal dominant hypohidrotic ectodermal dysplasia Babesiosis Carpenter syndrome Coffin-Siris syndrome Distal monosomy 10q Distal trisomy 10q Distal trisomy 6p Galloway-Mowat syndrome Methimazole embryofetopathy Sitosterolemia
Number of published cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases < 50 cases 49 cases 48 cases 47 cases 46 cases 45 cases 45 cases 44 cases 44 cases 43 cases 42 cases 41 cases > 40 cases > 40 cases 40 cases 40 cases 40 cases 40 cases 40 cases 40 cases 40 cases 40 cases 40 cases 40 cases 40 cases 40 cases
ORPHA Number 51636 969 2771 51188 95159 210548 584 56965 1946 137898 209867 55654 2457 168583 1647 1855 53721 970 36 83 2855 69126 1437 798 2783 123 561 2170 2795 35664 3427 659 67039 90 1229 3352 1752 3448 990 1102 77298 88924 2995 85164
Disease or group of diseases WHIM syndrome Acromicric dysplasia Bruck syndrome Ethylmalonic encephalopathy Hepatoerythropoietic porphyria Macrocephaly-autism syndrome Mucopolysaccharidosis type 7 Progressive bulbar paralysis of childhood Amelo-cerebro-hypohidrotic syndrome Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation Autosomal dominant rhegmatogenous retinal detachment Hypotrichosis simplex Mandibuloacral dysplasia Hereditary North American Indian childhood cirrhosis Oculocerebrocutaneous syndrome Spondyloenchondrodysplasia Cobb syndrome Hereditary sensory and autonomic neuropathy type 2 Acrocallosal syndrome Antley-Bixler syndrome Perrault syndrome Pyogenic arthritis - pyoderma gangrenosum - acne Ring chromosome 1 Schinzel-Giedion syndrome Autosomal dominant osteopetrosis type 1 Bjrnstad syndrome Marshall-Smith syndrome Methylcobalamin deficiency type cblG Polycystic ovaries - urethral sphincter dysfunction ALDH18A1-related DeBarsy syndrome Double outlet left ventricle Mutilating palmoplantar keratoderma with periorificial keratotic plaques Segmental odontomaxillary dysplasia Argininemia Congenital intrauterine infection-like syndrome Tricho-dento-osseous syndrome Trisomy 8q Weaver-Williams syndrome Agnathia - holoprosencephaly - situs inversus Anophthalmia - hypothalamo-pituitary insufficiency Anophthalmia/microphthalmia - esophageal atresia Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Baraitser-Winter syndrome Camptodactyly - tall stature - scoliosis - hearing loss
Number of published cases 40 cases < 40 cases < 40 cases < 40 cases < 40 cases < 40 cases < 40 cases < 40 cases 39 cases 39 cases 38 cases 38 cases 37 cases 36 cases 36 cases 36 cases 35 cases 35 cases 34 cases 34 cases 34 cases 34 cases 34 cases 34 cases 33 cases 33 cases 33 cases 33 cases 33 cases 32 cases 32 cases 32 cases 32 cases 31 cases > 30 cases > 30 cases > 30 cases > 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases
14
ORPHA Number 159 1361 139 1369 1525 1935 141163 3266 1662 2461 42642 29 1106 33445 2733 669 2849 2036 3163 3447 79157 957 3258 1545 1235 79155 1826 371 715 209943 140933 2636 2399 2316 163746 35705 66628 1427 2524 246 3005 91481 209370 98764
Disease or group of diseases Carnitine-acylcarnitine translocase deficiency Carnosinemia CHILD syndrome Congenital cataract - hypertrophic cardiomyopathy mitochondrial myopathy Cranio-osteoarthropathy Early myoclonic encephalopathy Glossopalatine ankylosis Humeroradioulnar synostosis Lethal restrictive dermopathy Marden-Walker syndrome Marshall's syndrome with periodic fever Mevalonic aciduria Microphthalmia with limb anomalies Neuroectodermal melanolysosomal disease Omodysplasia Otopalatodigital syndrome Perlman syndrome Scalp-ear-nipple syndrome SHORT syndrome Weaver syndrome 2-methylbutyryl-CoA dehydrogenase deficiency Acropectorovertebral dysplasia Cenani-Lenz syndactyly Crisponi syndrome Ectodermal dysplasia - absent dermatoglyphs Encephalopathy due to hydroxykynureninuria Frontometaphyseal dysplasia Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to muscle phosphorylase kinase deficiency IRVAN syndrome Linear atrophoderma of Moulin Microcephalic osteodysplastic primordial dwarfism types 1 and 3 Nasopalpebral lipoma - coloboma - telecanthus Neuroectodermal syndrome, Johnson type Neurologic Waardenburg-Shah syndrome Neurometabolic disorder due to serine deficiency Obesity due to congenital leptin deficiency Otospondylomegaepiphyseal dysplasia Pontocerebellar hypoplasia type 2 Postaxial acrofacial dysostosis Pyle disease Ring dermoid of cornea Severe neonatal-onset encephalopathy with microcephaly Spinocerebellar ataxia type 27
Number of published cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases
ORPHA Number 93346 93315 29822 832 2834 1943 1873 2754 139444 1314 50814 2220 1388 466 2067 2623 69085 1040 2169 98771 7 56304 1262 166291 1955 2499 268249 2746 2201 54028 166286 3455 251019 3255 79124 1234 34521 209902 1186 3275 171607 1617 93329 1517 2040
Disease or group of diseases Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondylometaphyseal dysplasia, 'corner fracture' type Spontaneous periodic hypothermia Succinyl-CoA acetoacetate transferase deficiency Wrinkly skin syndrome Infant epilepsy with migrant focal crisis Jalili syndrome Joubert syndrome with orofaciodigital defect Leukoencephalopathy with bilateral anterior temporal lobe cysts Symmetrical thalamic calcifications Craniolenticulosutural dysplasia Hypertrichosis cubiti - short stature Catel-Manzke syndrome Fatal familial insomnia GAPO syndrome Geleophysic dysplasia Limb-mammary syndrome Metaphyseal anadysplasia Methylcobalamin deficiency type cblE Spinocerebellar ataxia type 18 3C syndrome Atelosteogenesis type II Book syndrome Dirofilariasis Erythrokeratodermia - ataxia Metachondromatosis Mycophenolate mofetil embryopathy Opsismodysplasia Palmoplantar keratoderma-spastic paralysis syndrome Plummer-Vinson syndrome Porokeratotic eccrine ostial and dermal duct nevus Wiedemann-Rautenstrauch syndrome 2q32q33 microdeletion syndrome Filippi syndrome Hepatic veno-occlusive disease - immunodeficiency Bartsocas-Papas syndrome Distal myopathy with early respiratory muscle involvement Hypercholesterolemia due to cholesterol 7alphahydroxylase deficiency Infantile onset spinocerebellar ataxia Synspondylism X-linked spastic paraplegia type 34 2q24 microdeletion syndrome Autosomal recessive omodysplasia Cantu syndrome Congenital bronchobiliary fistula
Number of published cases < 30 cases < 30 cases < 30 cases < 30 cases < 30 cases 29 cases 29 cases 29 cases 29 cases 29 cases 28 cases 28 cases 27 cases 27 cases 27 cases 27 cases 27 cases 27 cases 27 cases 26 cases 25 cases 25 cases 25 cases 25 cases 25 cases 25 cases 25 cases 25 cases 25 cases 25 cases 25 cases 25 cases < 25 cases < 25 cases < 25 cases 24 cases 24 cases 24 cases 24 cases 24 cases 24 cases 23 cases 23 cases 23 cases 23 cases
15
ORPHA Number 713 2315 52022 3349 85203 88636 2670 269229 209908 71271 1578 69082 168593 24 198 83616 67046 971 1134 85192 160148 88642 1637 1519 26137 2363 79319 140966 670 2394 178364 965 966 73271 3047 97297 209905 1358 1387 1466 1513 137678 257 79084
Disease or group of diseases Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Johanson-Blizzard syndrome Potocki-Shaffer syndrome Treft-Sanborn-Carey syndrome Acro-pectoral syndrome Aortic dilatation - joint hypermobility - arterial tortuosity Pierson syndrome Pontine tegmental cap dysplasia Speech-language disorder type 1 Split hand - split foot - deafness Dehydratase deficiency Odonto-tricho-ungual-digito-palmar syndrome Sudden infant death - dysgenesis of the testes Fumaric aciduria Occipital horn syndrome Rubella panencephalitis 3-methylglutaconic aciduria type 1 Acrorenal syndrome Arrhinia Calvarial doughnut lesions - bone fragility Cap polyposis Channelopathy-associated congenital insensitivity to pain Distal monosomy 8p Hypertelorism, Teebi type Juvenile temporal arteritis Lacrimo-auriculo-dento-digital syndrome MPI-CDG syndrome Palmoplantar keratoderma, Nagashima type PIBIDS syndrome Pyruvate dehydrogenase E3 deficiency Syndromic microphthalmia type 5 Acromegaloid facial appearance syndrome Acromegaloid facies - hypertrichosis Bleeding diathesis due to a collagen receptor defect Blepharophimosis-intellectual deficit syndrome, SBBYS type Bohring-Opitz syndrome Brain-lung-thyroid syndrome Carey-Fineman-Ziter syndrome Cataract - intellectual deficit - hypogonadism COFS syndrome Craniodiaphyseal dysplasia Czech dysplasia, metatarsal type Epidermolysis bullosa simplex with muscular dystrophy Familial partial lipodystrophy, Kbberling type
Number of published cases 23 cases 23 cases 23 cases 23 cases 22 cases 22 cases 22 cases 22 cases 22 cases 22 cases 21 cases 21 cases 21 cases > 20 cases > 20 cases > 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases
ORPHA Number 97232 30 59303 85173 3387 86919 2375 210566 69084 71289 3021 1438 98768 101110 98773 93280 455 65282 75857 178487 1541 79091 43115 139441 139447 50944 2765 88630 163696 1908 69744 1954 2102 168569 90045 99844 943 79283 93282 52503 964 2089
Disease or group of diseases Fingerprint body myopathy Hereditary orotic aciduria Ichthyosis - hypotrichosis - sclerosing cholangitis IMAGe syndrome Isolated anterior cervical hypertrichosis Keratosis palmaris et plantaris - clinodactyly Laryngeal abductor paralysis - intellectual deficit Myoclonic dystonia 15 Pure hair and nail ectodermal dysplasia Radio-ulnar synostosis - amegakaryocytic thrombocytopenia RAPADILINO syndrome Ring chromosome 10 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spondyloepiphyseal dysplasia, Omani type Superficial epidermolytic ichthyosis Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome 6q terminal deletion Adult intestinal botulism Craniosynostosis, Boston type Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia Hereditary myopathy with lactic acidosis due to ISCU deficiency Hypomyelination with atrophy of basal ganglia and cerebellum Progressive cavitating leukoencephalopathy Schopf-Schulz-Passarge syndrome Hypertrichotic osteochondrodysplasia Terminal osseous dysplasia - pigmentary defects Action myoclonus - renal failure syndrome Aminopterin/methotrexate embryofetopathy Circumscribed palmoplantar hypokeratosis Congenital lethal erythroderma GTP cyclohydrolase I deficiency H syndrome Hereditary folate malabsorption Leukocyte adhesion deficiency type III Malonic aciduria Methylmalonic acidemia with homocystinuria, type cblD Spondyloepimetaphyseal dysplasia, Pakistani type X-linked creatine transporter deficiency Acromegaly - cutis verticis gyrata - corneal leukoma Glycogen storage disease due to hepatic glycogen synthase deficiency
Number of published cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases < 20 cases 19 cases 19 cases 19 cases 19 cases 19 cases 19 cases 19 cases 19 cases 18 cases 18 cases 17 cases 17 cases 17 cases 17 cases 17 cases 17 cases 17 cases 17 cases 17 cases 17 cases 17 cases 17 cases 16 cases 16 cases
16
ORPHA Number 1568 209981 93972 33067 2538 2588 2753 52994 85278 920 79327 63442 157973 1515 453 79284 3405 70592 88620 171680 3097 2721 2731 3459 1658 978 1193 67036 34514 206549 118 79134 1660 79322 75378 1441 93356 91 171612 101102 50945 2143 158025 2353 268261
Disease or group of diseases Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures IRIDA syndrome Juberg-Marsidi syndrome Metaphyseal chondrodysplasia, Jansen type Microgastria - limb reduction defect Myhre syndrome Oral-facial-digital syndrome type 4 Orbital leiomyoma X-linked intellectual deficit, South African type Ablepharon macrostomia syndrome ALG1-CDG syndrome Angel-shaped phalango-epiphyseal dysplasia Congenital muscular dystrophy due to LMNA mutation Cranioectodermal dysplasia IBIDS syndrome Umbilical cord ulceration - intestinal atresia Immunodeficiency due to interleukin-1 receptorassociated kinase-4 deficiency Isolated congenital anosmia Lissencephaly due to TUBA1A mutation Meacham syndrome Odonto-onycho-dermal dysplasia Taurodontia - absent teeth - sparse hair Wilson-Turner syndrome Absence of fingerprints - congenital milia ADULT syndrome Atkin-Flaitz syndrome Autosomal dominant optic atrophy and cataract Autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2L Beta-mannosidosis DEND syndrome Dermo-odonto dysplasia DPM1-CDG syndrome Oligocone trichromacy Ring chromosome 17 Spondyloepimetaphyseal dysplasia, Missouri type Aromatase deficiency Autosomal dominant spastic paraplegia type 37 Charcot-Marie-Tooth disease type 2H Chondrodysplasia, Blomstrand type Donnai-Barrow syndrome Hereditary progressive mucinous histiocytosis Schilbach-Rott syndrome 21q22.13q22.2 microdeletion syndrome
Number of published cases 16 cases 16 cases 16 cases 16 cases 16 cases 16 cases 16 cases 16 cases 16 cases 15 cases 15 cases 15 cases 15 cases 15 cases 15 cases
ORPHA Number 956 1008 3137 1190 56305 844 93395 1471 63273 600 230 86817 2237 85320 1187 2763 98772 3460 1473 79324 2987 1479 1487 88619 168624 2021 1757 2253 2854 166272 168588 3063 79076 210133 1532 137862 83628 166282 3363 1497 1401 167 1993
Disease or group of diseases Acro-pectoro-renal dysplasia Alopecia - epilepsy - pyorrhea - intellectual deficit Alpha-N-acetylgalactosaminidase deficiency Atelosteogenesis I Atelosteogenesis type III Atrial tachyarrhythmia with short PR interval Ballard syndrome Coloboma of macula - brachydactyly type B Distal myopathy with posterior leg and anterior hand involvement Distal myopathy with vocal cord weakness Dopamine beta-hydroxylase deficiency Hemolytic anemia due to adenylate kinase deficiency Hypoparathyroidism - deafness - renal disease Intellectual deficit, X-linked - macrocephaly - macroorchidism Lethal ataxia with deafness and optic atrophy Osteocraniostenosis Spinocerebellar ataxia type 19 Torg-Winchester syndrome Uveal coloboma - cleft lip and palate - intellectual deficit ALG12-CDG syndrome Antecubital pterygium syndrome Atrial septal defect - atrioventricular conduction defects Cooks syndrome Familial acute necrotizing encephalopathy Familial scaphocephaly syndrome, McGillivray type Fibrochondrogenesis Fibular dimelia - diplopodia Foveal hypoplasia - presenile cataract Fuhrmann syndrome Goldblatt syndrome Hyperandrogenism due to cortisone reductase deficiency Intellectual deficit, X-linked, Snyder type Juvenile polyposis of infancy Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair Lopez-Hernandez syndrome Martinez-Frias syndrome PELVIS syndrome Sick sinus syndrome Trichomegaly - retina pigmentary degeneration dwarfism X-linked complicated corpus callosum dysgenesis CHAND syndrome Chediak-Higashi syndrome Pai syndrome
Number of published cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 12 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases 11 cases > 10 cases > 10 cases > 10 cases
Methylmalonic acidemia with homocystinuria, type cblF 15 cases 15 cases < 15 cases < 15 cases < 15 cases < 15 cases < 15 cases < 15 cases > 14 cases 14 cases 14 cases 14 cases 14 cases 14 cases 14 cases 14 cases 14 cases 14 cases 14 cases 14 cases 14 cases 14 cases 13 cases 13 cases 13 cases 13 cases 13 cases 13 cases 13 cases 12 cases
17
ORPHA Number 1001 968 79321 1150 69739 1231 1263 66625 46627 93114 99954 1474 86918 1627 69086 79083 2047 66629 97340 1336 85163 1313 254504 85329 2319 2579 2691 3032 75790 2062 85174 140969 210115 85274 3339 85336 916 1788 39 209973 171881 2872
Disease or group of diseases 2q37 microdeletion syndrome Acromesomelic dysplasia, Hunter-Thomson type ALG3-CDG syndrome Arthrogryposis multiplex congenita - whistling face Athabaskan brainstem dysgenesis syndrome Barber-Say syndrome Boomerang dysplasia Cerebro-oculo-nasal syndrome Char syndrome Charcot-Marie-Tooth disease - nephropathy Charcot-Marie-Tooth disease type 4H Colobomatous - microphthalmia - heart disease hearing loss Diffuse palmoplantar keratoderma-acrocyanosis syndrome Distal monosomy 5q Ectodermal dysplasia - skin fragility syndrome Familial partial lipodystrophy associated with PPARG mutations Flynn-Aird syndrome Goldberg-Shprintzen megacolon syndrome Hunter-McAlpine craniosynostosis Hyperkeratosis-hyperpigmentation syndrome Hypomyelination - congenital cataract Infantile choroido cerebral calcification syndrome Inhalational botulism Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior Juberg-Hayward syndrome Muscular atrophy - ataxia - retinitis pigmentosa diabetes mellitus Nevo syndrome NPHP3-related Meckel-like syndrome Pollitt syndrome Progressive non-infectious anterior vertebral fusion Pseudodiastrophic dysplasia Saldino-Mainzer syndrome Sterile multifocal osteomyelitis with periostitis and pustulosis Syndromic X-linked intellectual deficit 7 Toriello-Lacassie-Droste syndrome X-linked neurodegenerative syndrome, Hamel type Aase-Smith syndrome Acrofacial dysostosis, Rodriguez type Acromelanosis Benign familial nocturnal alternating hemiplegia of childhood Cap myopathy Cardiocranial syndrome, Pfeiffer type
Number of published cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases
ORPHA Number 2767 2081 973 1490 3226 66637 1674 96125 139406 2072 2087 1426 178330 2590 2244 220465 2371 99843 1824 94084 1952 736 2255 139426 2880 2959 2981 85191 101111 3317 3469 97240 168558 2008 35704 1195 209951 69737 1292 137628 1345 79333 33574
Disease or group of diseases Carpotarsal osteochondromatosis Cerebral gigantism - jaw cysts Congenital absence/hypoplasia of fingers excluding thumb, unilateral Corneal dystrophy - perceptive deafness Deafness - lymphedema - leukemia Diaphanospondylodysostosis Digitorenocerebral syndrome Distal monosomy 6p Encephalopathy due to prosaposin deficiency Gaucher disease - ophthalmoplegia - cardiovascular calcification Glomerulonephritis - sparse hair - telangiectasis Greenberg dysplasia Heinz body anemia Hereditary myoclonus - progressive distal muscular atrophy Hypopituitarism - microphthalmia Laron syndrome with immunodeficiency Lethal Larsen-like syndrome Leukocyte adhesion deficiency type II Lowry-Wood syndrome Pachygyria - epilepsy - intellectual deficit dysmorphism Pacman dysplasia Palmoplantar porokeratosis of Mantoux Pancreatic hypoplasia - diabetes - congenital heart disease Perioral myoclonia with absences Phosphoenolpyruvate carboxykinase deficiency Progeria - short stature - pigmented nevi Pseudo-Zellweger syndrome Singleton-Merten dysplasia Spinocerebellar ataxia type 25 Thoracolaryngopelvic dysplasia XK aprosencephaly Zebra body myopathy 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency Acro-cardio-facial syndrome Arginine:glycine amidinotransferase deficiency Atransferrinemia Autosomal recessive spastic paraplegia type 18 Bosley-Salih-Alorainy syndrome Brachymorphism - onychodysplasia - dysphalangism Cardiac anomalies - heterotaxy Cardiomyopathy - cataract - hip spine disease COG7-CDG syndrome Gamma-glutamylcysteine synthetase deficiency
Number of published cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases < 10 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases
18
ORPHA Number 85286 137871 2658 171857 83619 2707 93317 1264 85338 163982 33572 2561 79325 2206 1188 73229 1278 1318 1327 3219 183678 2180 2958 85273 85289 1454 2326 140936 210144 137639 2510 178389 85167 1493 3474 163693 958 93382 66631 2016 171829 38874 210571 1901
Disease or group of diseases Intellectual deficit, X-linked, Shashi type Laminopathy type Decaudain-Vigouroux Lenz-Majewski hyperostotic dwarfism Leukodystrophy - spastic paraplegia - dystonia Macrostomia - preauricular tags - external ophthalmoplegia Oculocerebrofacial syndrome, Kaufman type Spondylometaphyseal dysplasia, Sedaghatian type Tricho-retino-dento-digital syndrome X-linked intellectual deficit - ataxia - apraxia X-linked intellectual deficit - spastic quadriparesis 5-oxoprolinase deficiency Ackerman syndrome ALG8-CDG syndrome Ankylosing vertebral hyperostosis with tylosis Ataxia-deafness-retardation syndrome Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures Brachydactyly - preaxial hallux varus Campomelia, Cumming type Camptodactyly syndrome, Guadalajara type 1 Fountain syndrome Hermansky-Pudlak syndrome with neutropenia Hydrocephalus - costovertebral dysplasia - Sprengel anomaly Intellectual deficit, X-linked - dysmorphism - cerebral atrophy Intellectual deficit, X-linked, Abidi type Intellectual deficit, X-linked, Vitale type Joubert syndrome with hepatic defect Kallmann syndrome - heart disease Lelis syndrome Lethal polymalformative syndrome, Boissel type Leukoencephalopathy - ataxia - hypodontia hypomyelination Micro syndrome Osteopetrosis - hypogammaglobulinemia Spondylometaphyseal dysplasia - cone-rod dystrophy Vici syndrome Zunich-Kaye syndrome 2p21 microdeletion syndrome Acro-renal-mandibular syndrome Brachydactyly type A6 CEDNIK syndrome Cleft palate-lateral synechia syndrome Deletion 6q16 syndrome Dihydropyrimidinuria Dystonia 16 Ehlers-Danlos syndrome, dermatosparaxis type
Number of published cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 9 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 8 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases
ORPHA Number 211067 209970 338 33573 85201 163979 163976 85282 2506 2598 79323 71526 1000 1574 3087 3078 3194 3341 101028 178338 1131 85334 86788 35701 168563 1786 2057 91135 93973 168984 157820 1555 3220 157965 79106 1951 79094 2117 1808 2245 3051 3077 85276 85337
Disease or group of diseases Episodic ataxia type 5 Episodic ataxia type 7 Familial multiple fibrofolliculoma Gamma-glutamyl transpeptidase deficiency Genitopatellar syndrome Intellectual deficit, X-linked - craniofacioskeletal syndrome Intellectual deficit, X-linked, Van Esch type MEHMO syndrome Michels syndrome Mitochondrial myopathy and sideroblastic anemia MPDU1-CDG syndrome Obesity due to pro-opiomelanocortin deficiency Ocular albinism - late-onset sensorineural deafness Retinal degeneration - nanophthalmos - glaucoma Retinohepatoendocrinologic syndrome Severe X-linked intellectual deficit, Gustavson type Stern-Lubinsky-Durrie syndrome Torticollis - keloids - cryptorchidism - renal dysplasia Transaldolase deficiency UV-sensitive syndrome X-linked mandibulofacial dysostosis X-linked neurodegenerative syndrome, Bertini type X-linked severe congenital neutropenia 3-hydroxy 3-methylglutaryl-CoA synthase deficiency 46,XY gonadal dysgenesis - motor and sensory neuropathy Acrofacial dysostosis, Catania type Blepharophimosis - ptosis - esotropia - syndactyly short stature Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Carpenter-Waziri syndrome CLAPO syndrome Cold-induced sweating syndrome Cutis gyrata - acanthosis nigricans - craniosynostosis Deafness - enamel hypoplasia - nail defects Ehlers-Danlos syndrome, spondylocheiro dysplastic type Eiken syndrome Epilepsy telangiectasia Grange syndrome Hartsfield-Bixler-Demyer syndrome Hidrotic ectodermal dysplasia, Christianson-Fourie type Hypopituitarism - postaxial polydactyly Intellectual deficit - sparse hair - brachydactyly Intellectual deficit, X-linked - psychosis macroorchidism Intellectual deficit, X-linked, Armfield type Intellectual deficit, X-linked, Zorick type
Number of published cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 7 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases
19
ORPHA Number 2306 2339 83473 2569 991 2934 1115 3175 211017 93316 3204 3246 140952 1078 2804 3454 90301 929 1784 69736 1005 157954 1094 1129 85175 206580 1226 65287 75374 50815 83472 139515 1200 1415 79095 1514 1535 1553 1562 1657 1888 2953
Disease or group of diseases Isotretinoin-like syndrome Keratosis follicularis - dwarfism - cerebral atrophy Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus Moore-Federman syndrome PAGOD syndrome Polysyndactyly - cardiac malformation Recessive aplasia cutis congenita of limbs Spasticity - intellectual deficit - X-linked epilepsy Spinocerebellar ataxia type 30 Spondylometaphyseal dysplasia, Schmidt type Stormorken-Sjaastad-Langslet syndrome Symphalangism with multiple anomalies of hands and feet Syndactyly - telecanthus - anogenital and renal malformations Thumb stiffness - brachydactyly - intellectual deficit W syndrome Wieacker-Wolff syndrome Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement Achalasia - microcephaly Acro-fronto-facio-nasal dysostosis Acute bilateral depigmentation of the iris Alopecia - contractures - dwarfism - intellectual deficit ANE syndrome Anonychia - microcephaly Arachnodactyly - abnormal ossification - intellectual deficit Astley-Kendall dysplasia Autosomal recessive lower motor neuron disease with childhood onset Bamforth syndrome Beta-ureidopropionase deficiency Bradyopsia Branchiogenic deafness syndrome CAMOS syndrome Charcot-Marie-Tooth disease type 4J Choanal atresia - deafness - cardiac defects dysmorphism Cholestasis - pigmentary retinopathy - cleft palate Congenital bile acid synthesis defect type 4 Craniodigital syndrome - intellectual deficit Craniosynostosis - dysmorphism - brachydactyly Curry-Jones syndrome Dacryocystitis - osteopoikilosis Dermatoosteolysis, Kirghizian type Ectrodactyly - ectodermal dysplasia without clefting Ehlers-Danlos syndrome, musculocontractural type
Number of published cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 6 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases
ORPHA Number 1272 137834 2077 2085 1792 94056 210141 85295 85280 86821 86914 2470 2565 2668 2669 2714 1811 2739 91134 36355 85112 2823 97341 3003 93975 3168 168443 2571 163937 85297 178333 2111 46059 3128 94063 94065 178303 921 1787 171836 1104 1110
Disease or group of diseases Fine-Lubinsky syndrome Frank-Ter Haar syndrome German syndrome Glaucoma - sleep apnea Humerospinal dysostosis Humeroulnar synostosis Inherited congenital spastic tetraplegia Intellectual deficit, X-linked - choreoathetosis abnormal behavior Intellectual deficit, X-linked - cubitus valgus dysmorphism Lissencephaly type 3 - familial fetal akinesia sequence Lymphedema - cerebral arteriovenous anomaly Matthew-Wood syndrome Mononen-Karnes-Senac syndrome Nephropathy - deafness - hyperparathyroidism Nephrosis - deafness - urinary tract - digital malformations Oculo-palato-cerebral syndrome Odontomicronychial dysplasia Onycho-tricho-dysplasia - neutropenia Osteogenesis imperfecta - shortened long bones white sclerae P2Y12 deficiency Palmoplantar keratoderma - XX sex reversal predisposition to squamous cell carcinoma Paraplegia - brachydactyly - cone-shaped epiphysis Persistent placoid maculopathy Pyknoachondrogenesis Renier-Gabreels-Jasper syndrome Sillence syndrome Spondyloepimetaphyseal dysplasia - hypotrichosis X-linked immunoneurologic disorder X-linked intellectual deficit, Najm type X-linked spinocerebellar ataxia type 3 land Island eye disease Cystic hamartoma of lung and kidney Lathosterolosis Sakati-Nyhan syndrome 12q14 microdeletion syndrome 15q24 microdeletion syndrome 8q22.1 microdeletion syndrome Abruzzo-Erickson syndrome Acrofacial dysostosis, Palagonia type Amelogenesis imperfecta and gingival hyperplasia syndrome Anophthalmia plus syndrome Aortic arch anomaly - peculiar facies - intellectual deficit
Number of published cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases 5 cases < 5 cases < 5 cases < 5 cases < 5 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases
20
ORPHA Number 1117 1135 1682 137911 65743 71269 140963 171844 1261 2946 2431 1435 2001 2050 210163 1508 1538 171839 3229 2141 1307 91131 1816 1884 85186 209967 85162 1768 2095 73272 139573 1809 2150 2168 1790 88637 69735 2269 91132 75391 3044 85331
Disease or group of diseases Aplasia cutis - myopia Arrhinia - choanal atresia - microphthalmia Arterial dissection - lentiginosis Autism - facial port-wine stain Autosomal dominant multiple pterygium syndrome Benign exophthalmos syndrome Bilateral microtia - deafness - cleft palate Blindness - scoliosis - arachnodactyly Bonnemann-Meinecke-Reich syndrome Brachydactyly - long thumb Central bilateral macrogyria Choroideremia - deafness - obesity Cleft lip/palate - intestinal malrotation - cardiopathy Cole-Carpenter syndrome Congenital lethal myopathy, Compton-North type Coxoauricular syndrome Craniosynostosis - Dandy-Walker - hydrocephalus Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis Deafness - peripheral neuropathy - arterial disease Diaphragmatic defect - limb deficiency - skull defect Distal limb deficiencies - micrognathia syndrome DK1-CDG syndrome Ectodermal dysplasia, Berlin type Ectopia lentis - chorioretinal dystrophy - myopia Endosteal sclerosis - cerebellar hypoplasia Episodic ataxia type 6 Facial onset sensory and motor neuronopathy Familial caudal dysgenesis Gorlin-Chaudhry-Moss syndrome Growth delay due to insulin-like growth factor I deficiency Hereditary sensory and autonomic neuropathy with deafness and global delay Hidrotic ectodermal dysplasia, Halal type Hirschsprung disease - type D brachydactyly Homocarnosinosis Hypomandibular faciocranial dysostosis Hypomyelination - hypogonadotropic hypogonadism hypodontia Hypotrichosis - lymphedema - telangiectasia Ichthyosis - alopecia - eclabion - ectropion intellectual deficit Ichthyosis-hypotrichosis syndrome Immunodeficiency with natural-killer cell deficiency Intellectual deficit - dysmorphism - hypogonadism diabetes mellitus Intellectual deficit, X-linked - hypogonadism ichthyosis - obesity - short stature
Number of published cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases
ORPHA Number 3052 163971 85283 85285 85323 85287 85325 85288 2328 1842 1423 83629 2386 2215 79113 1240 79329 85172 171703 166024 2589 88635 88639 2676 77302 77295 2723 2919 2824 93333 65288 90023 210136 140976 85165 2865 79022 79132 2820 94095
Disease or group of diseases Intellectual deficit, X-linked - seizures - psoriasis Intellectual deficit, X-linked, Cilliers type Intellectual deficit, X-linked, Miles-Carpenter type Intellectual deficit, X-linked, Schimke type Intellectual deficit, X-linked, Seemanova type Intellectual deficit, X-linked, Siderius type Intellectual deficit, X-linked, Stevenson type Intellectual deficit, X-linked, Stocco Dos Santos type Kapur-Toriello syndrome Lethal bone dysplasia, Holmgren type Lethal recessive chondrodysplasia Leukoencephalopathy - metaphyseal chondrodysplasia Leukoencephalopathy-palmoplantar keratoderma syndrome Malignant hyperthermia - arthrogryposis - torticollis Mandibulofacial dysostosis-microcephaly syndrome Metaphyseal acroscyphodysplasia MGAT2-CDG syndrome Microcephalic osteodysplastic dysplasia, Saul-Wilson type Microcephaly - polymicrogyria - corpus callosum agenesis Multiple epiphyseal dysplasia, Al-Gazali type Myoclonus - cerebellar ataxia - deafness Myopathy due to calsequestrin and SERCA1 protein overload Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Neuroectodermal-endocrine syndrome Oculo-oto-facial dysplasia Odontoleukodystrophy Odontotrichomelic syndrome Oral-facial-digital syndrome type 5 Paraplegia - intellectual deficit - hyperkeratosis Pelviscapular dysplasia Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis Primary immunodeficiency syndrome due to p14 deficiency Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia RHYNS syndrome Severe achondroplasia - developmental delay acanthosis nigricans Short stature - webbed neck - heart disease Simpson-Golabi-Behmel syndrome type 2 Sparse hair - short stature - skin anomalies Spastic paraplegia - nephritis - deafness Spondylocostal dysostosis - anal and genitourinary malformations
Number of published cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases
21
ORPHA Number 93352 163673 163654 163668 163649 50816 93405 3336 3355 210128 85326 2951 953 83617 79328 139477 1069 1067 69125 1101 1112 1116 1130 1133 1027 206554 1220 168549 1259 1299 1321 3238 2218 93971 1458 103910 83620 2772 1389 1529 1521
Disease or group of diseases Spondyloepimetaphyseal dysplasia, Shohat type Spondyloepiphyseal dysplasia, Byers type Spondyloepiphyseal dysplasia, Cantu type Spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia, Nishimura type Spondylometaphyseal dysplasia with combined immunodeficiency Syndactyly type 4 Tom-Brunet-Fardeau syndrome Tricho-odonto-onychial dysplasia Urocanic aciduria X-linked intellectual deficit, Stoll type Absent thumb - short stature - immunodeficiency Acromesomelic dysplasia, Brahimi-Bacha type
Number of published cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 4 cases 3 cases 3 cases
ORPHA Number 52054 2881 85321 2983 999 3172 1970 2084 73223 137625 65798 1408 90030 178396 2153 93970 1882 137908 171860 1495 85317 85318 163961 85324 85290 85291 137622 1972 2736 2389 50811 86915 3433 2515 2521 137658 83642 77299 1655
Disease or group of diseases Craniosynostosis - intracranial calcifications Cutaneous photosensitivity - lethal colitis Deafness - intellectual deficit, Martin-Probst type Disorder of sex development - intellectual deficit Ermine phenotype Eyebrow duplication - syndactyly Facial dysmorphism - macrocephaly - myopia - DandyWalker malformation Glaucoma - ectopia - microspherophakia - stiff joints short stature Global developmental delay - osteopenia - ectodermal defect Glycogen storage disease due to muscle and heart glycogen synthase deficiency Goodman syndrome Hair defect - photosensitivity - intellectual deficit Hemolytic anemia due to glutathione reductase deficiency Hemorrhagic disease due to alpha-1 antitrypsin Pittsburgh mutation Hirschsprung disease - nail hypoplasia - dysmorphism Holmes-Gang syndrome Hypohidrotic ectodermal dysplasia - hypothyroidism ciliary dyskinesia Hypotonia with lactic acidemia and hyperammonemia Intellectual deficit - cataracts - kyphosis Intellectual deficit - hypoplastic corpus callosum preauricular tag Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration Intellectual deficit, X-linked - precocious puberty obesity Intellectual deficit, X-linked, Kroes type Intellectual deficit, X-linked, Shrimpton type Intellectual deficit, X-linked, Wilson type Intellectual deficit, X-linked, Wittwer type Intractable diarrhea - choanal atresia - eye anomalies Lethal faciocardiomelic dysplasia Lethal omphalocele-cleft palate syndrome Lewis-Pashayan syndrome Lipodystrophy - intellectual deficit - deafness Lymphedema - atrial septal defects - facial changes Microcephaly - brachydactyly - kyphoscoliosis Microcephaly - cardiomyopathy Microcephaly - cleft palate Microcephaly - intellectual deficit - phalangeal and neurological anomalies Microcytic anemia with liver iron overload Microphthalmia - brain atrophy Mullerian derivatives - lymphangiectasia - polydactyly
Number of published cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases
Agammaglobulinemia - microcephaly - craniosynostosis 3 cases - severe dermatitis ALG9-CDG syndrome Al-Gazali-Dattani syndrome Aniridia - absent patella Aniridia - ptosis - intellectual deficit - familial obesity Anonychia with flexural pigmentation Anophthalmia - megalocornea - cardiopathy - skeletal anomalies Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis Aplasia cutis congenita - intestinal lymphangiectasia Arachnodactyly - intellectual deficit - dysmorphism AREDYLD syndrome Autosomal recessive amelia Autosomal recessive limb-girdle muscular dystrophy type 2M Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities Axial spondylometaphyseal dysplasia Blepharoptosis - myopia - ectopia lentis Branchio-skeleto-genital syndrome Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia Cardiospondylocarpofacial syndrome Cervical hypertrichosis - peripheral neuropathy Chudley-Lowry-Hoar syndrome CODAS syndrome Congenital enterocyte heparan sulfate deficiency Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Congenital osteogenesis imperfecta - microcephaly cataracts Cortical blindness - intellectual deficit - polydactyly Craniofacial-deafness-hand syndrome Craniofrontonasal dysplasia - Poland anomaly 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases
22
ORPHA Number 2608 2613 2675 2713 2752 2786 75325 171848 166063 166068 166073 2064 88618 3010 3018 79156 66633 139466 2649 629 2437 171866 168448 163665 168544 168972 166277 3210 1777 3326 3369 3404 2975 949 2666 52055 2007 1021 69088 1064 1068
Disease or group of diseases N syndrome Nail patella-like - renal disease Neuroaxonal dystrophy - renal tubular acidosis Oculoosteocutaneous syndrome Oral-facial-digital syndrome type 3 Osteoporosis-oculocutaneous-hypopigmentation syndrome Osteosclerosis - ichthyosis - premature ovarian failure Peripheral neuropathy, Fiskerstrand type Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 6 Posterior fusion of lumbosacral vertebrae blepharoptosis Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Qazi-Markouizos syndrome Rambaud-Galian syndrome Seizures - intellectual deficit due to hydroxylysinuria Sensorineural hearing loss - early greying - essential tremor SERKAL syndrome Short stature - intellectual deficit - eye anomalies cleft lip/palate Short stature due to growth hormone qualitative anomaly Split hand - urinary anomalies - spina bifida Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepiphyseal dysplasia tarda, Kohn type Spondylometaphyseal dysplasia, Golden type SRD5A3-CDG syndrome Suarez-Stickler syndrome Summitt syndrome Temtamy syndrome Thymic-renal-anal-lung dysplasia Trigonocephaly - short stature - developmental delay Ulbright-Hodes syndrome 46,XX disorder of sex development - skeletal anomalies Acrocraniofacial dysostosis Adult familial nephronophtisis - spastic quadriparesia Agenesis of the corpus callosum - intellectual deficit coloboma - micrognathia Alar cartilages hypoplasia - coloboma - telecanthus Amaurosis - hypertrichosis Anhidrotic ectodermal dysplasia - immunodeficiency osteopetrosis - lymphedema Aniridia - renal agenesis - psychomotor retardation Aniridia-intellectual deficit syndrome
Number of published cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 3 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases
ORPHA Number 91129 1485 1192 77300 71270 64542 1227 1237 1251 1295 52047 168598 75389 85284 1326 91130 90022 2998 1368 1380 3240 1422 1433 1995 2015 2010 1453 95428 79302 71278 2271 1484 1488 1051 3177 1533 1534 1547 1563 1566 3214
Disease or group of diseases Anophthalmia - heart and pulmonary anomalies intellectual deficit Arthrogryposis - hyperkeratosis, lethal form Atherosclerosis- deafness - diabetes - epilepsy nephropathy Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Auriculoocular anomalies - cleft lip Autosomal recessive acrofacial dysostosis Bangstad syndrome Beemer-Ertbruggen syndrome Blepharo-facio-skeletal syndrome Brachytelephalangy - dysmorphism - Kallmann syndrome Braddock syndrome Brain demyelination due to methionine adenosyltransferase deficiency Brain malformation - congenital heart disease postaxial polydactyly BRESEK syndrome Camptodactyly syndrome, Guadalajara type 2 Cardiomyopathy - hypotonia - lactic acidosis Cardiomyopathy - renal anomalies Carnevale syndrome Cataract - ataxia - deafness Cataract - nephropathy - encephalopathy Central nervous system calcification - deafness tubular acidosis - anemia Chondrodysplasia - disorder of sex development Choroidal atrophy - alopecia Cleft lip - retinopathy Cleft palate - short stature - vertebral anomalies Cleft palate - stapes fixation - oligodontia Cleido rhizomelic syndrome COG8-CDG syndrome Congenital bile acid synthesis defect type 3 Congenital brain dysgenesis due to glutamine synthetase deficiency Congenital ichthyosis - microcephalus - tetraplegia Contractures - ectodermal dysplasia - cleft lip/palate Cooper-Jabs syndrome Corneal anesthesia - deafness - intellectual deficit Corneal-cerebellar syndrome Craniosynostosis - fibular aplasia Craniosynostosis-radial aplasia, Imaizumi type Cryptomicrotia - brachydactyly - excess fingertip arch Dahlberg-Borer-Newcomer syndrome Dandy-Walker malformation - postaxial polydactyly Deaf blind hypopigmentation syndrome, Yemenite type
Number of published cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases
23
ORPHA Number 3224 3239 71267 1266 1659 35107 79107 1678 50817 178503 2282 1806 1937 1948 103912 34527 166105 168566 2061 97295 2066 79330 1770 1354 2119 2135 168577 2155 2181 83639 163985 2235 157788 2266 2274 2272 169100 83449 85327 85319
Disease or group of diseases Deafness - genital anomalies - metacarpal and metatarsal synostosis Deafness - vitiligo - achalasia Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit Dermato-cardio-skeletal syndrome, Borrone type Dermatoleukodystrophy Desmosterolosis Developmental malformations - deafness - dystonia Dincsoy-Salih-Patel syndrome Duane anomaly - myopathy - scoliosis Dursun syndrome Dysmorphism - short stature - deafness - disorder of sex development Ectodermal dysplasia - blindness Eng-Strom syndrome Epilepsy - microcephaly - skeletal dysplasia Epithelio-exfoliative colitis - deafness Familial primary hypomagnesemia with normocalcuria and normocalcemia FASTKD2-related infantile mitochondrial encephalomyopathy Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 Fuqua-Berkovitz syndrome Furlong syndrome Gamma aminobutyric acid transaminase deficiency GCS1-CDG syndrome Gonadal dysgenesis, XY type - associated anomalies Heart defects - limb shortening HEC syndrome Hennekam-Beemer syndrome Hereditary cryohydrocytosis with reduced stomatin Hirschsprung disease - deafness - polydactyly Hydrocephaly - tall stature - joint laxity Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hyperekplexia - epilepsy Hypogonadotropic hypogonadism - retinitis pigmentosa Hypospadias-hypertelorism-coloboma and deafness Hypotrichosis-intellectual deficit, Lopes type Ichthyosis - hepatosplenomegaly - cerebellar degeneration Ichthyosis - oral and digital anomalies Immunodeficiency due to CD25 deficiency Inappropriate antidiuretic hormone secretion syndrome Intellectual deficit, X-linked - acromegaly hyperactivity Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism
Number of published cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases
ORPHA Number 2898 85277 1831 2324 2352 1046 2347 163684 2390 86822 2621 137631 94061 2427 91494 1835 166035 166038 944 2511 137653 2172 2519 50810 1933 77301 3151 79118
Disease or group of diseases Intellectual deficit, X-linked - plagiocephaly Intellectual deficit, X-linked, Cantagrel type Iris dysplasia - hypertelorism - deafness Kaler-Garrity-Stern syndrome Kozlowski-Brown-Hardwick syndrome Lethal hemolytic anemia - genital anomalies Lethal Kniest-like dysplasia Leukoencephalopathy - dystonia - motor neuropathy Lichstenstein syndrome Lissencephaly type 3 - metacarpal bone dysplasia Low birth weight - dwarfism - dysgammaglobulinemia Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis Macrocephaly - immune deficiency - anemia Macrocephaly - short stature - paraplegia Macular coloboma - cleft palate - hallux valgus Mesomelic dysplasia - skin dimples Metaphyseal chondrodysplasia - retinitis pigmentosa Metaphyseal chondrodysplasia, Kaitila type Methylmalonic aciduria - microcephaly - cataract Microbrachycephaly - ptosis - cleft lip Microcephaly - digital anomalies - intellectual deficit Microcephaly - glomerulonephritis - marfanoid habitus Microcephaly - seizures - intellectual deficit - heart disease Microlissencephaly - micromelia Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Monosomy 9q22.3 Multiple sclerosis - ichthyosis - factor VIII deficiency Neonatal diabetes - congenital hypothyroidism congenital glaucoma - hepatic fibrosis - polycystic kidneys Not NOTCH3-related small vessel disease of the brain Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay Obesity due to prohormone convertase-I deficiency Oculotrichodysplasia Okamoto syndrome Ossification anomalies - psychomotor development delay Osteochondrodysplatic nanism - deafness - retinitis pigmentosa Osteogenesis imperfecta - retinopathy - seizures intellectual deficit Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism PARC syndrome Pierre Robin syndrome - faciodigital anomaly Pilodental dysplasia - refractive errors Pseudoprogeria syndrome
Number of published cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases
77304 88643 71528
2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases
2 cases 2 cases 2 cases 2 cases 2 cases
2718 2729 73230 2653 2773
2 cases 2 cases 2 cases 2 cases 2 cases 2825 2888 2892 2985 91133
24
ORPHA Number 2988 99832 3105 3118 3132 1003 3134 94066 2867 3167 2826 3011 73245 168451 168454 168552
Disease or group of diseases Pterygium colli - intellectual deficit - digital anomalies Resistance to thyrotropin-releasing hormone syndrome Robinow-like syndrome Rudiger syndrome Say-Barber-Miller syndrome Scalp defects - postaxial polydactyly SCARF syndrome Severe intellectual deficit - epilepsy - anal anomalies distal phalangeal hypoplasia Short stature, Brussels type Siegler-Brewer-Carey syndrome Spastic paraplegia - precocious puberty Spastic tetraplegia - retinitis pigmentosa - intellectual deficit Spinal muscular atrophy - Dandy-Walker complex cataracts Spondyloepimetaphyseal dysplasia - abnormal dentition Spondyloepimetaphyseal dysplasia, Genevieve type Spondylometaphyseal dysplasia - bowed forearms facial dysmorphism
Number of published cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases
ORPHA Number 168555 3199 3200 3262 50809 3291 3323 3327 3362 3368 3365 73224 73246 3468 50812 79326 79332 86309
Disease or group of diseases Spondylometaphyseal dysplasia, A4 type Stimmler syndrome Stoll-Alembik-Finck syndrome Syngnathia multiple anomalies Talo-patello-scaphoid osteolysis Teebi-Shaltout syndrome Thrombocytopenia - Robin sequence Thyrocerebrorenal syndrome Trichomegaly - cataract - hereditary spherocytosis Trigonocephaly - bifid nose - acral anomalies Trigonocephaly - broad thumbs Tubular renal disease - cardiomyopathy Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay Xeroderma - talipes - enamel defects ALG2-CDG syndrome B4GALT1-CDG syndrome DPAGT1-CDG syndrome
Number of published cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 2 cases 1 case 1 case 1 case
Zellweger-like syndrome without peroxisomal anomalies 2 cases
2- Number of published families
ORPHA Number 524 98759 757 627 34515 3274 98762 90026 49827 2848 3222 98763 643 3237 3203 959
Disease or group of diseases Li-Fraumeni syndrome Spinocerebellar ataxia type 17 Pseudohypoaldosteronism type 2 Nance-Horan syndrome Autosomal recessive limb-girdle muscular dystrophy type 2I Granulomatous arthritis of childhood Spinocerebellar ataxia type 12 Primary erythermalgia Thiamine-responsive megaloblastic anemia syndrome Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Phosphoribosylpyrophosphate synthetase superactivity Spinocerebellar ataxia type 14 Giant axonal neuropathy Multiple synostoses syndrome Overhydrated hereditary stomatocytosis Acro-renal-ocular syndrome
Number of published families 400 families < 100 families 80 families 50 families > 40 families 40 families 40 families 30 families 30 families < 30 families < 30 families > 20 families 20 families 20 families 20 families < 20 families
ORPHA Number 100998 71290 90031 88621 25980 163690 560 444 99955 93974 1065 1276 100988 140927 60030 931 100991
Disease or group of diseases Autosomal dominant spastic paraplegia type 17 Familial platelet syndrome with predisposition to acute myelogenous leukemia Nonspherocytic hemolytic anemia due to hexokinase deficiency Ichthyosis prematurity syndrome X-linked myopathy with excessive autophagy Hypotonia - cystinuria syndrome Marshall syndrome Marie Unna congenital hypotrichosis Charcot-Marie-Tooth disease type 4B1 Smith-Fineman-Myers syndrome Aniridia - cerebellar ataxia - intellectual deficit Brachydactyly - arterial hypertension Autosomal dominant spastic paraplegia type 6 Benign familial neonatal-infantile seizures Loeys-Dietz syndrome type 1 Acheiropodia Autosomal dominant spastic paraplegia type 10
Number of published families < 20 families < 20 families 17 families 16 families 15 families 14 families > 12 families 12 families 11 families 11 families > 10 families > 10 families 10 families 10 families 10 families < 10 families < 10 families
25
ORPHA Number 100993 100994 100989 100996 2238 79133 178464 1062 2202 2198 807 85279 3138 3412 90001 2791 1377 1832 1897 37042 75381 90024 1799 137634 2254 140917 85110 34516 34517 2802 3248 3351 1325 2307 171851 46348 97239 101108 2947 2952 99944
Disease or group of diseases Autosomal dominant spastic paraplegia type 12 Autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 8 Autosomal recessive spastic paraplegia type 15 Familial isolated hypoparathyroidism Focal facial dermal dysplasia Hereditary myopathy with early respiratory failure Hereditary neurocutaneous angioma Palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-esophageal carcinoma syndrome Sebastian syndrome Syndromic X-linked intellectual deficit due to JARID1C mutation Ulnar-mammary syndrome VACTERL with hydrocephalus X-linked cone dysfunction syndrome with myopia Otodental syndrome Cataract-microcornea syndrome Lethal osteosclerotic bone dysplasia EEM syndrome X-linked immune dysregulation - polyendocrinopathy - enteropathy Cystoid macular dystrophy Deafness with labyrinthine aplasia, microtia, and microdontia Familial developmental dysphasia Overgrowth - macrocephaly - facial dysmorphism Pontocerebellar hypoplasia type 1 Stapes ankylosis with broad thumbs and toes Familial encephalopathy with neuroserpin inclusion bodies Autosomal dominant limb-girdle muscular dystrophy type 1D Autosomal dominant limb-girdle muscular dystrophy type 1E X-linked sideroblastic anemia - ataxia Distal symphalangism Trichodental syndrome Camptodactyly - taurinuria IVIC syndrome MEDNIK syndrome Paroxysmal extreme pain disorder Reducing body myopathy Spinocerebellar ataxia type 23 Triphalangeal thumbs - brachyectrodactyly Adducted thumbs - arthrogryposis, Christian type Autosomal dominant Charcot-Marie-Tooth disease type 2K
Number of published families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families < 10 families 9 families 8 families 8 families 7 families 7 families 6 families 6 families 6 families 6 families 6 families 6 families > 5 families 5 families
ORPHA Number 34528 95433 162 3421 157832 94064 63261 71516 71517 1074 114 266 101006 101007 139480 1241 1252 93389 1867 1171 75497 79136 2239 2027 2055 1540 157801 139471
Disease or group of diseases Autosomal dominant primary hypomagnesemia with hypocalcuria Autosomal recessive cerebellar ataxia - blindness deafness Cataract-glaucoma Cerebroretinal vasculopathy Craniorhiny Deafness-infertility syndrome HERNS syndrome Mixed dystonia Rapid-onset dystonia-parkinsonism Ankyloblepharon filiforme - imperforate anus Auriculoosteodysplasia Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal recessive spastic paraplegia type 26 Autosomal recessive spastic paraplegia type 27 Autosomal recessive spastic paraplegia type 39 Bencze syndrome Blepharonasofacial malformation syndrome Brachydactyly type A5 Bullous dystrophy, macular type
Number of published families 3 families 3 families 3 families 3 families 3 families 3 families 3 families 3 families 3 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families
Cerebellar ataxia - areflexia - pes cavus - optic atrophy 2 families - sensorineural hearing loss Ehlers-Danlos syndrome type 5 Episodic ataxia type 4 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Gingival fibromatosis - progressive deafness Growth deficiency - brachydactyly - dysmorphism Jackson-Weiss syndrome Mesoaxial synostotic syndactyly with phalangeal reduction Microphthalmia with brain and digit anomalies North Carolina macular dystrophy Oral-facial-digital syndrome type 8 Partington syndrome Progressive bifocal chorioretinal atrophy Retinitis pigmentosa - intellectual deficit - deafness hypogenitalism Skeletal dysplasia - intellectual deficit Spastic paraplegia - glaucoma - intellectual deficit Thickened earlobes - conductive deafness Albinism-deafness syndrome Aphalangy - syndactyly - microcephaly Arthrogryposis-like hand anomaly - sensorineural deafness Autosomal dominant Charcot-Marie-Tooth disease type 2F 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 2 families 1 family 1 family 1 family 1 family
5 families 5 families < 5 families < 5 families 4 families 4 families 4 families 4 families 4 families 4 families 4 families 3 families 3 families
75327 2755 94083 75373 3085 1436 2818 2405 998 1113 1144 99940
26
ORPHA Number 99941 99945 55595 55596 1010 101009 171617 100990 95434 100995 101003 101004 101005 101008 101010 171622 171629 1228 1246 85293 1319 101101 2391 94062 85168 1527 2674 163988 1765 75501 79135 79085
Disease or group of diseases Autosomal dominant Charcot-Marie-Tooth disease type 2G Autosomal dominant Charcot-Marie-Tooth disease type 2L Autosomal dominant limb-girdle muscular dystrophy type 1F Autosomal dominant limb-girdle muscular dystrophy type 1G Autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant spastic paraplegia type 29 Autosomal dominant spastic paraplegia type 38 Autosomal dominant spastic paraplegia type 9 Autosomal recessive cerebellar ataxia - saccadic intrusion Autosomal recessive spastic paraplegia type 14 Autosomal recessive spastic paraplegia type 23 Autosomal recessive spastic paraplegia type 24 Autosomal recessive spastic paraplegia type 25 Autosomal recessive spastic paraplegia type 28 Autosomal recessive spastic paraplegia type 30 Autosomal recessive spastic paraplegia type 32 Autosomal recessive spastic paraplegia type 35 Banki syndrome Brachydactyly - nystagmus - cerebellar ataxia Cabezas syndrome Camptobrachydactyly Charcot-Marie-Tooth disease type 2B2 Congenitally short costocoracoid ligament
Number of published families 1 family 1 family 1 family 1 family 1 family
ORPHA Number 85335 71291 2186 166108 85322 2355 139450 139512
Disease or group of diseases Fried syndrome Hereditary vascular retinopathy Hydrocephalus - blue sclerae - nephropathy Intellectual deficit, Birk-Barel type Intellectual deficit, X-linked, Pai type Kumar-Levick syndrome Microtia - eye coloboma - imperforation of the nasolacrimal duct Neuropathy with hearing impairment Oculodental syndrome, Rutherfurd type Oculogastrointestinal muscular dystrophy Pili torti - onychodysplasia Ptosis - strabismus - ectopic pupils Schizophrenia - intellectual deficit - deafness - retinitis Short fifth metacarpals - insulin resistance Short stature - pituitary and cerebellar defects - small sella turcica Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Reardon type Steroid dehydrogenase deficiency - dental anomalies Tietz syndrome Trichodysplasia - amelogenesis imperfecta Ulnar/fibula ray defect - brachydactyly Upington disease Van den Bosch syndrome Woolly hair - hypotrichosis - everted lower lip outstanding ears X-linked hereditary sensory and autonomic neuropathy with deafness X-linked myopathy with postural muscle atrophy X-linked recessive intellectual deficit - macrocephaly ciliary dysfunction X-linked spastic paraplegia type 16
Number of published families 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family
1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family
2709 1876 2890 2999 3141 66518 85442 93283 163662 3196 42665 79129 52056 3408 3417 1409 139583 178461 83648 100997
Coronary artery disease - hyperlipidemia - hypertension 1 family - diabetes - osteoporosis Craniofacial conodysplasia Craniosynostosis, Philadelphia type Cyprus facial-neuromusculoskeletal syndrome Developmental delay - deafness, Hildebrand type Dyschondrosteosis - nephritis Ehlers-Danlos syndrome, fibronectinemic type Episodic ataxia type 3 Familial partial lipodystrophy due to AKT2 mutations 1 family 1 family 1 family 1 family 1 family 1 family 1 family 1 family
For any questions or comments, please contact us: contact.orphanet@inserm.fr

Editor-in-chief: Odile Kremp Editor of the report : Natacha Marpillat Visual design : Cline Angin The correct form when quoting this document is : Prevalence of rare diseases: Bibliographic data ,Orphanet Report Series, Rare Diseases collection, November 2012, Number 2 : Listed in order of decreasing prevalence or number of published cases, http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf
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Prevalence of Rare Diseases by Decreasing Prevalence or Cases

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Prevalence of Rare Diseases by Decreasing Prevalence or Cases

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Prevalence distribution of rare diseases

200 180 160 140

Orphanet Report Series

120 100 80 60 40 20 0 0 5 10 15 20 25 30 35 40 45 50 Estimated prevalence (/100000)

November November 2012 2009 Number 2

Prevalence of rare diseases: Bibliographic data

For any questions or comments, please contact us: contact.orphanet@inserm.fr

List of diseases or groups of diseases by decreasing prevalence

0.35 0.35 416 464

List of diseases or groups of diseases by decreasing number of published cases or families

ORPHA Number 79087 53035 13 2710 2241

Monoclonal Ig light chain-associated Fanconi syndrome 100 cases

77304 88643 71528

2 cases 2 cases 2 cases 2 cases 2 cases

2718 2729 73230 2653 2773

Zellweger-like syndrome without peroxisomal anomalies 2 cases

2- Number of published families

Number of published families 1 family 1 family 1 family 1 family 1 family

For any questions or comments, please contact us: contact.orphanet@inserm.fr

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