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Diseases

Genetic and Rare Diseases Information Center (GARD)

Freeman Sheldon syndrome


Other Names for this Disease
  • FSS
  • Arthrogryposis distal type 2A
  • Whistling face-windmill vane hand syndrome
  • Craniocarpotarsal dystrophy
  • Craniocarpotarsal dysplasia
Related Diseases
  • Myosinopathies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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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

References
  1. Cormier-Daire V. Freeman-Sheldon syndrome. Orphanet Encyclopedia. 2005; http://www.orpha.net/data/patho/GB/uk-FreemanSheldon.pdf. Accessed 5/7/2010.


Other Names for this Disease
  • FSS
  • Arthrogryposis distal type 2A
  • Whistling face-windmill vane hand syndrome
  • Craniocarpotarsal dystrophy
  • Craniocarpotarsal dysplasia
Related Diseases
  • Myosinopathies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.