Phocomelia Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Phocomelia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Roberts SC-Phocomelia Syndrome
  • Roberts Tetraphocomelia Syndrome
  • SC Phocomelia Syndrome
  • Pseudo-thalidomide Syndrome

Disorder Subdivisions

  • Fetal Effects of Thalidomide
  • Tetraphocomelia Syndrome

General Discussion

Phocomelia syndrome (PS) is a rare birth defect that causes severe birth defects, especially of the upper limbs. The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The fingers of the hands may be fused. An extreme case results in the absence of the upper bones of both the arms and legs so that the hands and feet appear attached directly to the body. This is called tetraphocomelia.

This disorder, PS, may be genetically transmitted within families as an autosomal recessive trait or may be the result of spontaneous (sporadic) changes in the gene. Because the signs of the disorder so closely mimic those caused by the ingestion of thalidomide by pregnant women, the term "pseudo-thalidomide" is frequently used.

Resources

National Rehabilitation Information Center
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Internet: http://www.naric.com

Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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