Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Phocomelia Syndrome


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
  • National Rehabilitation Information Center
    4200 Forbes Boulevard
    Lanham MD 20706-4829
    Phone #: 301-459-5900
    800 #: 800-346-2742
    e-mail: naricinfo@heitechservices.com
    Home page: http://www.naric.com



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