Description : Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome
involving characteristic vertex scalp defects and terminal limb defects, but without
congenital heart defects, other associated defects, or immune defects. For a discussion
of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the recombination signal-binding protein for immunoglobulin
kappa J region gene (RBPJ, 147183.0001);