Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Tetra-amelia syndrome


Other Names for this Disease

  • Tetra-amelia
  • Tetra-amelia, autosomal recessive
  • Tetraamelia, autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. The condition has been associated with a mutation in the WNT3 gene in one family, and it appears to be inherited in an autosomal recessive manner.[1]
Last updated: 2/11/2011

References

  1. Tetra-amelia syndrome. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/tetra-amelia-syndrome. Accessed 2/11/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Tetra-amelia syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • The 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Tetra-amelia syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Tetra-amelia
  • Tetra-amelia, autosomal recessive
  • Tetraamelia, autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.