Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Rhizomelic chondrodysplasia punctata type 1


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

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.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • RCDP1
  • Chondrodysplasia punctata rhizomelic form
  • CDPR
  • Chondrodystrophia calcificans punctata
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.