My watch list

Camptomelic dysplasia

This article or section is in need of attention from an expert on the subject.

WikiProject Medicine may be able to help recruit one.
If a more appropriate WikiProject or portal exists, please adjust this template accordingly.

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.

Additional recommended knowledge

How to quickly check pipettes?

Guide to balance cleaning: 8 simple steps

Safe Weighing Range Ensures Accurate Results

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.