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Genetic and Rare Diseases Information Center (GARD)

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Rhizomelic chondrodysplasia punctata type 1


Other Names for this Disease
  • CDPR
  • Chondrodysplasia punctata rhizomelic form
  • Chondrodystrophia calcificans punctata
  • RCDP
  • RCDP1
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Overview

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of three types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.[1]
Last updated: 5/26/2015

References

  1. Rhizomelic chondrodysplasia punctata. Genetics Home Reference (GHR). July 2010; http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata. Accessed 5/26/2015.
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Please contact us with your questions about Rhizomelic chondrodysplasia punctata type 1. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Rhizomelic chondrodysplasia punctata type 1. This website is maintained by the National Library of Medicine.

In Depth Information

  • 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 Rhizomelic chondrodysplasia punctata type 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CDPR
  • Chondrodysplasia punctata rhizomelic form
  • Chondrodystrophia calcificans punctata
  • RCDP
  • RCDP1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.