Alternative titles and symbols : Acral dysostosis with facial and genital abnormalities; Fetal face syndrome; Robinow dwarfism;
Description : Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic
limb shortening associated with facial and genital abnormalities (Robinow et al.,
1969). Both autosomal dominant and autosomal recessive (268310) forms have been described;
the recessive form is caused by mutations in the ROR2 gene (602337).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 5A gene
(WNT5A, 164975.0001);