Campomelic dysplasia

Camptomelic dysplasia is a genetic disorder, camptomelic or campomelic refer to the bowing of the femur and tibia, (campto meaning bent and melia refers to the limbs) 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. Sox9 controls transcription of Type II collagen and the proteoglycan aggrecan, and is also related to sex reversal. Genetically male (XY) individuals appear phenotypically female, because SOX9 is not able to fulfill its role in sex determination (testis development).