• Robinow syndrome and Brachydactyly B1 are two developmental disorders caused by biallelic and monoallelic (heterozygous) variations in ROR2 gene respectively.
• Robinow syndrome should be suspected in children with primordial short stature.
• Being clinically distinguishable, many cases are reported in the literature, though the mutation proven cases are few. Recently many cases with variations in AD genes like DVL1, DVL3, WNT5A and FZD2 are reported with attempts to make a genotype phenotype correlation using Human Phenotype Ontology.
• Recently one case with convincing clinical phenotype was reported with a likely pathogenic variation in DVL2 gene, thus adding one more causative gene for AD Robinow syndrome.
ROR2