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Genetic and Rare Diseases Information Center (GARD)

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Chondrodysplasia punctata 1, X-linked recessive


Other Names for this Disease
  • Arylsulfatase E deficiency
  • CDPX1
  • Chondrodysplasia punctata 1 X-linked recessive
  • Chondrodysplasia punctata brachytelephalangic
  • Chondrodysplasia punctata, brachytelephalangic
More Names
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Overview


Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development.[1] On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. Additional common features of CDPX1 are shortened fingers and a flat nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. CDPX1 is caused by changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening.
Last updated: 4/22/2009

References

  1. Braverman NE, Bober M, Brunetti-Pierri N, Oswald GL. Chondrodysplasia Punctata 1, X-Linked Recessive. Gene Reviews. April 22, 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cdp1-xlr. Accessed 4/20/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chondrodysplasia punctata 1, X-linked recessive. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 1, X-linked recessive. Click on the link to view a sample search on this topic.