Patients with Robinow syndrome (RS) [OMIM #268310] have characteristic facial features, growth retardation, limb defects, and genital hypoplasia. Skeletal anomalies include mesomelic or acromesomelic limb shortening, hemivertebrae, and brachydactyly. Characteristic facial features include macrocephaly, prominent broad forehead, hypertelorism, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large triangular mouth, micrognathia, and low-set ears. Patients with autosomal recessive RS (RRS) appear to be more severely affected than those believed to have autosomal dominant RS (DRS). Rib fusions are not seen in individuals with DRS. Mutations of the ROR2 [OMIM #602337] gene have been identified in patients with RRS. Approximately 65-100% of individuals with RRS have mutations in ROR2.
Contact the Robinow Syndrome Foundation (www.robinow.org) for more information and support.
Patients with brachydactyly, type B1 (BDB1) [OMIM #113000] have hypoplasia/aplasia of the distal phalanges and nails. BDB1 is the most severe form of brachydactyly. Heterozygous mutations of the ROR2 [OMIM #602337] gene have been identified in patients with BDB1.
Deletions and/or duplications of the ROR2 gene as causative of Robinow syndrome have been reported.