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Copyright 1990, 1992, 1998, 2006
Synonyms of Phocomelia Syndrome
- Pseudo-thalidomide Syndrome
- Roberts SC-Phocomelia Syndrome
- Roberts Tetraphocomelia Syndrome
- SC Phocomelia 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.
Organizations related to Phocomelia Syndrome
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- National Rehabilitation Information Center
8201 Corporate Drive, Suite 600
Lanham MD 20785
Phone #: 301-459-5900
800 #: 800-346-2742
e-mail: naricinfo@heitechservices.com
Home page: http://www.naric.com
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