Conditions / Syndrome
autosomal dominant Robinow syndrome 2
info · Syndrome
A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
Signs and symptoms
- Short nose
- Calvarial osteosclerosis
- Thin corpus callosum
- Oligodontia
- Micropenis
- Global developmental delay
- Midface retrusion
- Hip dislocation
- Triangular mouth
- Hypoplasia of the radius
Also known as: DRS2