Camptomelic dysplasia

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The 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 Sox 9, 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. Sox 9 controls transcription of Type II collagen and the proteoglycan aggrecan.