Chondrodysplasia- Grebe type
Overview
A rare genetic disorder characterized by dwarfism and various limb deformities.
Symptoms
* Dwarfism * Obesity * Shortened limbs * Very short legs * Short digits
Causes
Grebe syndrome is caused by a missense mutation in the gene encoding cartilage-derived morphogenetic protein-1. The protein encoded by the CDMP1 gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily