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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • FSS
  • Arthrogryposis distal type 2A
  • Whistling face-windmill vane hand syndrome
  • Craniocarpotarsal dystrophy
  • Craniocarpotarsal dysplasia
  • DA2A


Freeman Sheldon syndrome
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How can you detect Freeman Sheldon syndrome?



  • How is Freeman Sheldon syndrome diagnosed? (Back to Top)

  • Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose.[1] A definitive diagnosis can be made through clinical genetic testing.

    GeneTests
    lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Last Reviewed: 5/7/2010
  • How can I find a genetics professional in my area? (Back to Top)

  • 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 Reviewed: 3/26/2012


References  (Back)
  1. Cormier-Daire V. Freeman-Sheldon syndrome. Orphanet Encyclopedia. 2005 Available at: http://www.orpha.net/data/patho/GB/uk-FreemanSheldon.pdf. Accessed May 7, 2010.



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