Clinical features:
(1) mild to moderate growth deficiency
(2) microcephaly
(3) mental retardation, which may range from mild to severe
(4) hypotonia
(5) holoprosencephaly (presence associated with poor prognosis)
Facial findings:
(1) low nasal bridge
(2) epicanthal fold
(3) ptosis
(4) hypertelorism
(5) micrognathia
(6) wide mouth with downturning corners of mouth
(7) large, protruding ears
(8) strabismus
(9) webbed neck
Changes in the extremities:
(1) small hands and feet
(2) clinodactyly in fifth finger (medial or lateral deviation)
(3) syndactyly
(4) talipes equinovarus
Other findings:
(1) increased frequency of dental caries
(2) IgA deficiency or absence
(3) pectus excavatum
(4) restlessness and emotional lability
(5) alopecia
(6) cardiac malformations
(7) genital malformations
