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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
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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


  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; Accessed 6/11/2009.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.