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Genetic and Rare Diseases Information Center (GARD)

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Chondrodysplasia punctata 2 X-linked dominant


Other Names for this Disease

  • CDPX2
  • CDPXD
  • Chondrodysplasia punctata, x-linked dominant
  • Conrad Hunermann Happle syndrome
  • Conradi Hunermann syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia 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.[1][2] 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.[1]
Last updated: 11/18/2011

References

  1. 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.
  2. Whittock N, Izatt L. X-linked dominant chondrodysplasia punctata. Orphanet. 2004; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35173. Accessed 11/18/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chondrodysplasia punctata 2 X-linked dominant. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chondrodysplasia punctata 2 X-linked dominant. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CDPX2
  • CDPXD
  • Chondrodysplasia punctata, x-linked dominant
  • Conrad Hunermann Happle syndrome
  • Conradi Hunermann syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.