Approach to

a child with
Dysmorphism
By
Dr.Rabi Dhakal
 Dysmorphology is a discipline of clinical genetics that
studies and attempts to interpret the patterns of human
growth and structural defects.
The child with dysmorphic signs often does not have a
major malformation, and he or she may simply have an
appearance that is unusual compared with the general
population and out of keeping with that of unaffected
close relatives.

A syndrome is simply a recognizable pattern of

dysmorphic signs that have a common cause.
Causes of malformations
History
Antenatal history
Problems with infertility (medications [clomid]
techniques [IVF - invitro fertilization, PGD - preimplantation genetic diagnosis, ICSI -
intracytoplasmic sperm injection])
Fetal Movement (active, decreased)
Exposures (medications, tobacco, alcohol, drugs, chemicals)
Illnesses (fevers, exposures to infections)
Problems (bleeding, pre-term labor, abnormal prenatal testing or ultrasound)

Birth history
Presentation: breech/cephalic/oblique
Delivery: vaginal, c-section (why?)
Neonatal course (complications/problems and days hospitalized)
History
Neonatal status
APGAR
Anthopometric measurements
Resuscitation

Newborn course
Feeding
Activity
Obvious deformities
Complications / issues
History
Past Medical History
Illnesses, hospitalizations, surgeries, immunizations, medications, allergies
A detailed review of systems.

Developmental History
Address parental concerns.
Determine ages for milestones (gross motor, fine motor, personal/social,
language).
Determine current milestones (appropriate for age?).
Family history

Take a detailed, three-generation family history

Family history
Ask for:

Birth defects
Other genetic diseases
Multiple miscarriages
Parental ages and health status
Consanguinity and geographic origin
Physical examination
Growth monitoring
Measurements of the child's weight, length, and head
circumference should be plotted on the standardized growth
charts.

General appearance
Body shape and size etc.
Physical Examination
DEFINITIONS OF COMMON CLINICAL SIGNS OF DYSMORPHIC
SYNDROMES
CRANIOFACIAL EYE

1. Large fontanel
1. Inner epicanthal folds
2. Flat or low nasal bridge 2. Telecanthus

3. Slanting of palpebral fissures

3. Saddle nose, upturned nose 4. Hypertelorism

4. Mild micrognathis 5. Brushfield spots

5. Cutis aplasia of scalp

 EAR
SKIN

1. Lack of helical fold

2. Posteriorly rotated pinna

1. Dimpling over bones
3. Preauricular with or without auricular skin tags
2. Capillary hemangioma (face, posterior neck)
4. Small pinna
3. Mongolian spots (African Americans, Asians)
5. Auricular (preauricular) pit or sinus
4. Sacral dimple
6. Folding of helix
5. Pigmented nevi
7. Darwinian tubercle
6. Redundant skin
8. Crushed (crinkled) ear
7. Cutis marmorata
9. Asymmetric ear sizes

10. Low-set ears

 HAND FOOT
1. Simian creases

2. Bridged upper palmar creases

3. Clinodactyly of fifth digit

4. Hyperextensibility of thumbs

5. Single flexion crease of fifth digit (hypoplasia of middle 1. Partial syndactyly of second and third toes

6. phalanx) 2. Asymmetric toe length

7. Partial cutaneous syndactyly 3. Clinodactyly of second toe

8. Polydactyly 4. Overlapping toes

9. Short, broad thumb 5. Nail hypoplasia

10. Narrow, hyperconvex nails 6. Wide gap between hallux and second toe

11. Hypoplastic nails 7. Deep plantar crease between hallux and second toe

12. Camptodactyly

13. Shortened fourth digit

OTHERS

1. Mild calcaneovalgus
2. Hydrocele
3. Shawl scrotum
4. Hypospadias
5. Hypoplasia of labia majora
Imaging Studies

If short stature or disproportionate stature (long trunk and short

limbs) is noted, a full skeletal survey should be performed.
The skeletal survey can yield numerous abnormal features that
can be used to narrow the differential diagnosis.
When there are abnormal neurologic signs or symptoms, central
nervous system imaging is indicated.
Echocardiography and renal ultrasonography, can be useful to
identify additional major or minor malformations.
Laboratory Studies

Cytogenetics with Giemsa-banded peripheral leukocyte karyotype

(or chromosome) analysis has been the gold standard and has
been performed in most evaluations of the dysmorphic child .
Array CGH and SNP genotyping with copy number variation
(dosage detection) are the most sensitive methods for the
detection of genomic alterations associated with multiple
congenital anomalies.
Because many chromosome abnormalities include derangement
of the termini (telomeres) of the chromosomes, assays should
detect small (submicroscopic) duplications or deletions of the
termini of the chromosomes
 CLINICAL INDICATIONS FOR
KARYOTYPE ANALYSIS

1. At least one major and two minor

malformations
2. At least two major malformations
3. Developmental OR growth retardation
with two or more major or minor
anomalies
Diagnosis
The clinician should organize the findings by their
specificity into potential developmental
pathophysiologic processes.
The specificity assessment is the simplest.
Down syndrome (trisomy 21)
Low set ears
Hypotonia
Simian crease
Wide space between first and
second toe
Flat face
Patau syndrome (trisomy 13)
Holoprosencephaly
Cutis aplasia
Microcephaly
Microphthalmia
Cleft lip +/- palate
Polydactyly
Congenital heart defect
Edwards syndrome (trisomy 18)
Weak cry
Polyhydroamnios
Growth deficiency
Low-set, malformed
auricles
Clenched hand with
overlapping fingers
Rocker bottom feet
Congenital heart
defect
Klinefelter syndrome (47xxy)

Tall stature
Behavioral issues
Post-pubertal
hypogonadism
Turner syndrome (45x)
Not diagnosed until 5-6 yrs
Webbed neck
Shield chest
Cubitus vulgaris
Low hairline
Short stature
Renal anomalies
Cardiac anomalies (bicuspid
aortic valve and coarctation
of aorta)
Thank you