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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Freeman Sheldon syndrome


Other Names for this Disease

  • Arthrogryposis distal type 2A
  • Craniocarpotarsal dysplasia
  • Craniocarpotarsal dystrophy
  • DA2A
  • FSS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

How can you detect Freeman Sheldon syndrome?

Our Answer

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

How is Freeman Sheldon syndrome diagnosed?

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 updated: 5/7/2010

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: 6/5/2014

References
Other Names for this Disease
  • Arthrogryposis distal type 2A
  • Craniocarpotarsal dysplasia
  • Craniocarpotarsal dystrophy
  • DA2A
  • FSS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.