|
craniofacial features
| |
| ▷ craniosynostosis |
craniosynostosis-scaphocephaly
|
| ▷ frontal bossing |
-
|
| ▷ microcephaly |
microcephaly at birth, normal at 2 years 2 months
|
| ▷ deep-set large and widely spaced eyes |
- (small eyes)
|
| ▷ large uplifted earlobes with a dimple in the middle |
auricle dysplasia, low-set and asymmetrical
|
| ▷ a saddle nose with a rounded nasal tip |
- (flat nose bridge)
|
| ▷ open mouth appearance |
+
|
| ▷ M-shaped upper lip |
-
|
| ▷ prominent but narrow chin |
- (micrognathia)
|
| ▷ large, flaring eyebrows |
- (sparse eyebrows and hair)
|
| ▷ elongated face |
- (flat facial profile)
|
|
moderate to severe intellectual disability
|
mild cognitive impairment
|
|
developmental delay
| |
| ▷ growth development |
+
|
| ▷ delayed motor development |
+
|
| ▷ severe speech impairment with relative preservation of receptive language |
+
|
|
short stature
|
IUGR with postnatal catch-up
|
|
hypotonia
|
+
|
|
heart defects
|
+ (small atrial septal defect)
|
|
corpus callosum agenesis
|
-
|
|
epilepsy
|
-
|
|
hirschsprung disease
|
- (mild to moderate constipation)
|
|
friendly and happy personalities
|
+
|
|
abnormalities of the urinary tract and genitalia
|
+ (small testes)
|
|
hypospadias
|
-
|
|
eye defects
|
-
|
|
hand anomalies
|
+ (short hands and broad fingers)
|
|
others (skin pigmentary changes, etc.)
|
-
|
