Camptomelic dysplasia
From Wikipedia, the free encyclopedia
 |
Please help improve this article or section by expanding it. Further information might be found on the talk page or at requests for expansion. (January 2007) |
 |
This article or section is in need of attention from an expert on the subject. WikiProject Medicine or the Medicine Portal may be able to help recruit one. |
| Camptomelic dysplasia Classification and external resources |
|
| OMIM | 114290 |
|---|---|
| DiseasesDB | 33419 |
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 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.
