- Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
Your QuestionCan you please tell me more about Primrose syndrome? A loved one has this condition and I can't find hardly any information.
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Questions on this page
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
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)
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.
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:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- 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.
- 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;