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Genetic and Rare Diseases Information Center (GARD)

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Primrose syndrome


Other Names for this Disease

  • Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
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

Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. The cause of the condition is currently unknown. Treatment is supportive.
Last updated: 6/11/2009

References

  1. Battisti C, Dotti MT, Cerase A, Rufa A, Sicurelli F, Scarpini C, Federico A. The Primerose syndrome with progressive neurological involvement and cerebral calcification. J Neurol. 2002;
  2. Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes. Online Mendelian Inheritance in Man. 2006; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259050. Accessed 6/11/2009.
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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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Primrose syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.