Clinical features:
(1) postnatal growth retardation and short stature
(2) mental retardation
(3) behavioral problems
(4) hypotonia
(5) poor coordination
Facial features:
(1) midfacial hypoplasia with deep set eyes
(2) ocular abnormalities (retinal defect, optic atrophy, iris hypoplasia, nystagmus, microphthalmia, other)
(3) inner epicanthal folds
(4) slanted palpebral fissures
(5) carp-shaped mouth
(6) cleft palate and/or cleft lip
(7) prominent antihelix and/or antitragus
(8) other ear abnormalities (low set ears, conduction deafness, defect external canal, middle ear defects)
Changes in the extremities:
(1) short legs
(2) foot abnormalities (small, talipes equinovarus, other)
(3) hand abnormalities (high frequency whorl digital pattern, simian crease, fifth finger clinodactyly, long hand, other)
Other findings:
(1) males: hypospadias, cryptorchidism
(2) females: hypoplastic labia minora
(3) urethral reflux with recurrent urinary tract infection
(4) seizures
