Neurologic Central Nervous System:
intellectual disability
seizures
hypoplasia of the corpus callosum
cortical dysplasia
hypotonia
developmental delay
more
Head And Neck Head:
microcephaly
brachycephaly
trigonocephaly
Head And Neck Face:
retrognathia
short philtrum
wide forehead
Head And Neck Ears:
posteriorly rotated ears
dysplastic ears
large ears
Skeletal Hands:
distally placed thumb
thenar hypoplasia
tapering fingers
polydactyly (in some patients)
single palmar crease
Cardiovascular Heart:
ventricular septal defect (in some patients)
atrial septal defect (in some patients)
pulmonary valve stenosis (in one patient)
complex cardiac malformation (in 1 patient)
single ventricle (in 1 patient)
Growth Weight:
obesity (in some patients)
Head And Neck Eyes:
ptosis
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds
deep set eyes
more
Growth Height:
short stature
Genitourinary External Genitalia Male:
hypospadias
Head And Neck Nose:
prominent nose
broad nasal tip
long nasal bridge
Head And Neck Mouth:
high-arched palate
prominent and arched upper lip
Skeletal Feet:
overriding toes
