Conditions / Syndrome
autosomal recessive Robinow syndrome
info · Syndrome
A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital h
A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
Signs and symptoms
- Short stature
- Short nose
- Proximal fifth finger symphalangism
- Small nail
- Brachydactyly
- Micropenis
- Mesomelia
- Prominent forehead
- Hypertelorism
- Midface retrusion
Also known as: COVESDEM syndrome; RRS; costovertebral segmentation defect-mesomelia syndrome