autosomal dominant Robinow syndrome 1

A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mut

A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.

Signs and symptoms

• Short stature
• Short nose
• Brachydactyly
• Short long bone
• Epicanthus
• Delayed eruption of teeth
• Short lingual frenulum
• Nevus flammeus
• Bifid tongue
• Dental crowding

Also known as: DRS1