Jawad syndrome

Orpha code: 313795OMIM code: 251255

Definition

Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih 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.

Disease data
Classification

Malformation syndrome

ORPHA code
313795
OMIM code
251255
ICD10 code
-
ICD11 code
-

No additional description.

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