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Other Names for this Disease
- Cartilage hair hypoplasia like syndrome
- Metaphyseal chondrodysplasia McKusick type
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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.Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (
Last updated: 6/22/2011
- 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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- 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.
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cartilage-hair hypoplasia. Click on the link to go to OMIM and review these resources.
- 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.