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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
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Overview

Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations.[1] Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait.[1][2] However, most cases occur randomly with no apparent cause (sporadically).[1]
Last updated: 5/7/2010

References

  1. Freeman Sheldon Syndrome. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Freeman%20Sheldon%20Syndrome. Accessed 5/7/2010.
  2. Freeman-Sheldon Syndrome. The National Craniofacial Association. 2009; http://www.faces-cranio.org/Disord/Freeman.htm. Accessed 5/7/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Freeman Sheldon syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Freeman Sheldon syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • FSS
  • Arthrogryposis distal type 2A
  • Whistling face-windmill vane hand syndrome
  • Craniocarpotarsal dystrophy
  • Craniocarpotarsal dysplasia
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.