autosomal dominant Robinow syndrome 3

A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in th

A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.

Signs and symptoms

• Short stature
• Short nose
• Bifid tongue
• Micropenis
• Midface retrusion
• Anteverted nares
• Brachydactyly
• Clinodactyly
• Gingival overgrowth
• Mesomelia

Also known as: DRS3