Conditions / Genetic
omodysplasia 1
info · Genetic
An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on ch
An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.
Signs and symptoms
- Epicanthus
- Fibular hypoplasia
- Long philtrum
- Rhizomelia
- Limited elbow extension
- Blepharophimosis
- Short nose
- Short humerus
- Increased fibular diameter
- Anterolateral radial head dislocation