Tags: Disease.
Camptomelic dysplasia is a genetic disorder camptomelic or campomelic refer to the bowing of the femur and tibia (from Greek campto to bend and melos limb) commonly seen in this disorder.A mutation in the gene coding for the transcription factor Sox9 localized to chromosome 17 results in camptomelic dysplasia which is marked by anomalies of the ribs and vertebral column and bowing of the long bones.