Robinow syndrome

Robinow syndrome is a rare genetic disease characterized by diseased limbs and malformations of the face, head, and genitals. So far, about 200 cases of the disease have been identified.

A distinction is made between the milder, autosomal dominant (DRS) and severe, autosomal recessive (RRS) forms of the syndrome, due to heredity and the frequency of symptoms. The common symptoms of both forms of illness are dwarfism, facial features, brachydactyly, clinodactyly, mesomelic limb hyperplasia, gingival hyperplasia and hypoplastic genitalia. About three quarters of patients have hemibertebrae and scoliosis. Segmentation defects of the spine are more frequent in the RRS. Rib fusions have been reported only in patients with RRS, while umbilical hernias and overgrown teeth are predominantly found in DRS.

Other associated symptoms include frequent otitis, delayed development, loss of lumbar, respiratory, fulminating, esophageal reflux, and hypotonia.

The cause of RRS is mutations in the ROR2 gene. In about ten percent of DRS patients, mutations of the WNT5A gene were detected.