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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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Your Question

Can you please tell me more about Primrose syndrome? A loved one has this condition and I can't find hardly any information.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is primrose syndrome?

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

What are the symptoms of primrose syndrome?

Signs and symptoms of primrose syndrome that have been reported in the literature include:[1][2]

Severe learning disabilities
Boney ear cartilage
Cystic changes in to top of the arm and leg bones
Cataracts (clouding of the lens of the eyes)
Recurrent ear infections
Hearing loss 
Pogressive ataxia (uncoordinated movement) often with onset in  
Pyramidal signs (which shows there is a problem with the nervous system)
Muscle wasting of the lower limbs
Torus palatinus (a hard bony growth in the roof of the mouth)
Brain calcification (mineral deposits in the brain)
Sparse hair
Unique facial features (e.g., deep-set eyes, protruding lower jaw, droopy eyelids)

Schizophrenia and a germ cell tumor was also reported in isolated cases.
Last updated: 6/11/2009

What causes primrose syndrome?

The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic.[1][2] Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.
Last updated: 6/11/2009

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

  • Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes. Online Mendelian Inheritance in Man. 2006; Accessed 6/11/2009.
  • 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;