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.
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
