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



What is tetra-amelia syndrome?

Is genetic testing available for tetra-amelia syndrome?

How is tetra-amelia syndrome diagnosed?


What is tetra-amelia syndrome?

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

Is genetic testing available for tetra-amelia syndrome?

Genetic testing for tetra-amelia syndrome is currently available. GeneTests lists the names of laboratories that are performing genetic testing for tetra-amelia syndrome. To view the contact information for the clinical laboratories conducting testing, click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 2/11/2011

How is tetra-amelia syndrome diagnosed?

The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be found in an affected individual) is unknown because only a limited number of families have been studied.[2]
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.
  2. Stephan Niemann. Tetra-Amelia Syndrome. GeneReviews. August 28, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1276/. Accessed 2/11/2011.