Chondrodysplasia punctata 2 X-linked dominant
Other Names for this Disease
- Conradi Hunermann syndrome
- Happle syndrome
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characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by mutations in the emopamil binding protein gene, EBP. In many cases, this mutation occurs randomly, for no apparent reason (i.e., new mutation). The condition is inherited as an X-linked dominant trait and occurs almost exclusively in females. Treatment of CDPX2 is directed toward the specific symptoms that present in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, including physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); skin specialists (dermatologists); eye specialists; and/or other health care professionals.X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia
Last updated: 11/18/2011
- Braverman N. Conradi Hunermann Syndrome. National Organization for Rare Disorders (NORD) . 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/365/viewAbstract. Accessed 11/18/2011.
- Whittock N, Izatt L. X-linked dominant chondrodysplasia punctata. Orphanet. 2004; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10376&Disease_Disease_Search_diseaseGroup=X-linked-dominant-chondrodysplasia-punctata&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=X-linked-dominant-chondrodysplasia-punctata&title=X-linked-dominant-chondrodysplasia-punctata&search=Disease_Search_Simple. Accessed 11/18/2011.
- Genetics Home Reference (GHR) contains information on Chondrodysplasia punctata 2 X-linked dominant. This website is maintained by the National Library of Medicine.
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