Campomelic dysplasia
Campomelic dysplasia (pronunciation: kam-po-mel-ik dis-pla-zia) is a rare genetic disorder that affects the development of the skeleton and reproductive system. The term "campomelic" comes from the Greek words for "bent" (kampos) and "limb" (melos), referring to the characteristic bending of the long bones of the legs and sometimes the arms.
Symptoms
The most common symptoms of Campomelic dysplasia include short stature, bowed legs and arms, narrow chest, and facial abnormalities such as a small chin and prominent eyes. Many individuals with this condition also have an abnormality of the larynx and trachea, which can cause respiratory problems.
Causes
Campomelic dysplasia is caused by mutations in the SOX9 gene. This gene provides instructions for making a protein that is crucial for the development of many parts of the body, including the skeleton and reproductive system. Mutations in the SOX9 gene disrupt the normal development of these parts of the body, leading to the symptoms of Campomelic dysplasia.
Diagnosis
Diagnosis of Campomelic dysplasia is usually made based on the characteristic physical features and confirmed by genetic testing for mutations in the SOX9 gene.
Treatment
There is currently no cure for Campomelic dysplasia. Treatment is supportive and focuses on managing the symptoms. This may include surgery to correct bone abnormalities, respiratory support, and hormone therapy for individuals with abnormalities of the reproductive system.
Prognosis
The prognosis for individuals with Campomelic dysplasia varies. Some individuals have a mild form of the disorder and live into adulthood, while others have severe respiratory problems and do not survive past infancy.
See also
External links
- Medical encyclopedia article on Campomelic dysplasia
- Wikipedia's article - Campomelic dysplasia
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