Jawad syndrome (JWDS) is a syndromic form of autosomal recessive congenital microcephaly. Clinical features include congenital microcephaly with sharply slopping forehead, moderate to severe intellectual disability, and digital malformations. It has been reported that mutations in RBBP8 cause this syndrome. RBBP8 encodes CtIP, a key protein involved in DNA double-strand damage repair.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H02881 Jawad syndrome
