• Autosomal dominant Robinow syndrome is a developmental disorder caused by monoallelic (heterozygous) variations in DVL1 gene.
• Robinow syndrome should be suspected in children with facies resembling that of a fetus and 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 AR genes like ROR2 and NXN, and other AD genes like 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.
DVL1