Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Camptomelic dysplasia
Introduction
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.