Jawad syndrome

MONDO:0009622

Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

Also known as: Jawad syndrome, JAWAD syndrome, JWDS, Kelly syndrome, microcephaly with intellectual disability and digital anomalies, microcephaly with mental retardation and digital anomalies

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