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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cartilage-hair hypoplasia


Other Names for this Disease
  • Metaphyseal chondrodysplasia McKusick type
  • CHH
  • Cartilage hair hypoplasia like 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

Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affected individuals. People with this condition are also at an increased risk of developing cancer, particularly blood, skin, and immune system cancers. Gastrointestinal problems are also common. Cartilage-hair hypoplasia is caused by mutations in the RMRP gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 6/22/2011

References

  1. Cartilage-hair hypoplasia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia. Accessed 6/22/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cartilage-hair hypoplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Cartilage-hair hypoplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Metaphyseal chondrodysplasia McKusick type
  • CHH
  • Cartilage hair hypoplasia like 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.