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.
