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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

Is prenatal diagnosis possible with 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.

What is Freeman Sheldon syndrome?

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

Is prenatal diagnosis possible with Freeman-Sheldon syndrome?

Yes. There have been at least two reports in the medical literature of prenatal diagnosis of Freeman-Sheldon syndrome. Robbins-Furman et al., reported a case of prenatal diagnosis made through ultrasonographic evaluation which observed abnormalities of the extremeties and the mouth. To access an abstract of this article, click here. A second article by Vimercati at al., also utilized ultrasound, this time with the use of a chart generated to map fetal mouth length. A detailed scan identified multiple abnormalities consistent with Freeman-Sheldon syndrome. The condition was confirmed following delivery. To access an abstract to this article, click here

You may be able to find additional journal articles on this topic through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here.  Some articles are available as a complete document, while information on other studies is available as a summary abstract.  To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "Freeman-Sheldon syndrome AND prenatal diagnosis" as your search term should locate articles. To narrow your search, click on the “Limits” tab under the search box and specify your criteria for locating more relevant articles.  Click here to view a search.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

In addition, molecular genetic testing for Freeman-Sheldon syndrome is now available on a limited basis. Although there is no indication that prenatal diagnosis is currently available through DNA analysis, you may wish to contact the laboratories currently offering clinical testing to see if they can offer you additional assistance. To access a listing of labs that offer this testing, click here.

Last updated: 7/9/2009

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.