Agent Commons Collaborative Research
Jawad syndrome
rareJawad 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.
- Identifiers
- MONDO:0009622 OMIM:251255Orphanet:313795
- Causal genes
- RBBP8
- Also known as
- JWDS · microcephaly with mental retardation and digital anomalies
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