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Tetra-amelia syndrome

Reviewed February 2008

What is tetra-amelia syndrome?

Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to the failure of an arm or leg to develop before birth.) 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.

How common is tetra-amelia syndrome?

Tetra-amelia syndrome has been reported in only a few families worldwide.

What genes are related to tetra-amelia syndrome?

Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome.

In other affected families, the cause of tetra-amelia syndrome has not been determined. Researchers believe that unidentified mutations in WNT3 or other genes involved in limb development are probably responsible for the disorder in these cases.

How do people inherit tetra-amelia syndrome?

In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Where can I find information about treatment for tetra-amelia syndrome?

You may find information on treatment or management of tetra-amelia syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, Educational resources, and Patient support.

Where can I find additional information about tetra-amelia syndrome?

You may find the following resources about tetra-amelia syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    Health Topic: Bone Diseases (http://www.nlm.nih.gov/medlineplus/bonediseases.html)
  • Educational resources - Information pages
    • Lucile Packard Children's Hospital: Congenital Limb Defects (http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/orthopaedics/cldefect.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3300)
  • Patient support - For patients and families
    • Resource list from the University of Kansas Medical Center: Limb Anomalies (http://www.kumc.edu/gec/support/limb.html)
    • The Compassionate Friends (http://www.compassionatefriends.org/)
    • The MISS Foundation (http://www.misschildren.org)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tetra-amelia)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=276069)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((tetra-amelia[TIAB])+OR+(tetraamelia[TIAB]))+AND+english[la]+AND+human[mh])
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=273395)

What other names do people use for tetra-amelia syndrome?

  • Tetra-amelia
  • Tetra-amelia, autosomal recessive

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about tetra-amelia syndrome?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding tetra-amelia syndrome?

amelia ; autosomal ; autosomal recessive ; cell ; embryonic ; gene ; genitalia ; inheritance ; malformation ; mutation ; nervous system ; pattern of inheritance ; protein ; recessive ; sign ; symptom ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Başaran S, Yüksel A, Ermiş H, Kuseyri F, Ağan M, Yüksel-Apak M. Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome? Am J Med Genet. 1994 May 15;51(1):77-80. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=8030673)
  • Gene Review: Tetra-Amelia Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tetra-amelia)
  • Gershoni-Baruch R, Drugan A, Bronshtein M, Zimmer EZ. Roberts syndrome or "X-linked amelia"? Am J Med Genet. 1990 Dec;37(4):569-72. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=2260610)
  • Krahn M, Julia S, Sigaudy S, Liprandi A, Bernard R, Gonnet K, Heuertz S, Bonaventure J, Chau C, Fredouille C, Levy N, Philip N. Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes. Clin Genet. 2005 Dec;68(6):558-60. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16283889)
  • Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Müller U. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 2004 Mar;74(3):558-63. Epub 2004 Feb 5. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14872406)
  • Ohdo S, Madokoro H, Sonoda T, Takei M, Yasuda H, Mori N. Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation. J Med Genet. 1987 Oct;24(10):609-12. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=3681906)
  • Ohdo S, Sonoda T, Ohba K. Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390) J Med Genet. 1994 Dec;31(12):980-1. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=7534355)
  • Rosenak D, Ariel I, Arnon J, Diamant YZ, Ben Chetrit A, Nadjari M, Zilberman R, Yaffe H, Cohen T, Ornoy A. Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. Am J Med Genet. 1991 Jan;38(1):25-8. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=2012129)
  • Zimmer EZ, Taub E, Sova Y, Divon MY, Pery M, Peretz BA. Tetra-amelia with multiple malformations in six male fetuses of one kindred. Eur J Pediatr. 1985 Nov;144(4):412-4. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=4076260)
  • Zlotogora J, Sagi M, Shabany YO, Jarallah RY. Syndrome of tetraamelia with pulmonary hypoplasia. Am J Med Genet. 1993 Sep 15;47(4):570-1. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=8256824)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: January 12, 2009