Autosomal recessive inheritance.
Synopsis
marked microcephaly
rare severe mental deficiency
anorectal anomalies
premature craniosynostosis
itrauterine growth retardation (IUGR)
pstnatal growth failure
mcrocephaly Average birth head circumference 30.6cm
eongation of face with age
sall facies
sallow supraorbital ridge
fcial asymmetry
mcrognathia
hgh, sloping forehead
pominent ears
dsplastic ears
oitis media
lw-set ears
sort palpebral fissures
tlecanthus
posis
bepharophimosis
epinthal folds
sarse lateral eyebrows
srabismus
mcrophthalmia
hperopia
megalocornea
iris hypoplasia
iris coloboma
tapetoretinal degeneration
broad nasal tip
broad nasal bridge
high-arched palate
submucous cleft palate
delayed eruption
caries
missing teeth
poor feeding
frequent vomiting
chronic diarrhea
gastroesophageal reflux
hypospadias
inguinal hernia
cryptorchidism
delayed bone age
fifth finger clinodactyly
two-three toe syndactyly
pes planus
eczema (face and flexural areas)
sacral dimple
sparse scalp hair
mental retardation, moderate to severe (10-15% of patients)
hyperactivity
hypotonia
speech delay
behavioral/psychiatric manifestations
short attention span
high-pitched voice
immune deficiency
- recurrent infections
- hypogammaglobulinemia
- IgA deficiency
tumor predisposition
- aplastic anemia
- acute lymphatic leukemia
- lymphoma
- neuroblastoma