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Genetic and Rare Diseases Information Center (GARD)

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Limb-body wall complex


Other Names for this Disease

  • Aplasia of the cord
  • Body stalk anomaly
  • Cyllosomas
  • Limb body wall complex
  • Short umbilical cord syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My son had limb body-wall complex. I gave birth over 2.5 years ago.There is not a lot of information on the condition. Could you please send me some information?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is limb-body wall complex (LBWC)?

Limb-body wall complex (LBWC) refers to a congenital disorder characterized by very severe limb defects and anterior body wall defects. The complex includes two or three of the following defects: exencephaly or encephalocele with facial clefts (a rare condition in which there are areas of absent bone and sometimes overlying skin that may occur on one or both sides of the face), thoracoschisis (birth defect in which organs in the thoracic area stick out) and/or abdominoschisis (birth defect in which the organs in the abdominal area stick out), and limb defects. Scoliosis and a short umbilical cord are also frequently found. Other findings such as defects of the internal organs (heart, intestines, genitals, or urinary tract) and persistence of the three separate fluid-filled spaces that lie outside the developing embryo (extraembryonic coelom) have been seen in cases of LBWC. The exact cause of the complex has not been determined.[1] 
Last updated: 10/8/2013

What causes limb-body wall complex (LBWC)?

Although the exact cause of LBWC has not been determined and the following three explanations have been suggested, no general agreement has been reached [2]

(1) Amniotic band hypothesis - LBWC is caused by the early rupturing of the amniotic sac, which leads to the fibrous bands to form causing amputations and constrictions in the embryo. The timing of the amniotic rupture may explain the varying in severity from case to case.

(2) Vascular "disruption" hypothesis - LBWC is caused by bands that are brought on by disruption of blood blow in the embryo that occurs internally or externally. Fetal vascular disruption is a common explanation for fetal malformation defects, especially limb defects.

(3) Genetic hypothesis - LBWC is caused by mutations in genes involved in fetal development. There have been reports of families in which several members have LBWC.
Last updated: 5/4/2010

Have there been any documented surviving cases of limb body-wall complex (LBWC)?

Limb-body wall complex is generally considered to be incompatible with life.[1] However, there are at least two reported cases of individuals with this condition who have survived. Both of these cases occured in Japan. Click on the links below to read a summary of each article.

Kanamori Y, Hashizume K, Sugiyama M, Tomonaga T, Takayasu H, Ishimaru T, Terawaki K, Suzuki K, Goishi K, Takamizawa M. Long-term survival of a baby with body stalk anomaly: report of a case. Surg Today. 2007;37(1):30-3.
http://www.ncbi.nlm.nih.gov/pubmed/17186342

Mayumi I, Fumihito I, Haruo O, Michio K, Tetsuo H, Ken'ichi I, Teruyoshi A, Hirofumi N, Shuhei N. A Case of Body Stalk Anomaly Under Home Ventilation Support. Journal of the Japanese Society of Pediatric Surgeons. 1998;34(7):1208-1212.
http://sciencelinks.jp/j-east/article/199911/000019991199A0153096.php
Last updated: 3/31/2011

How might I find additional articles about limb-body wall complex (LBWC)?

You can find relevant articles on LBWC  through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "limb body wall complex" as your search term should help you locate articles. Use the advanced search feature to narrow your search results.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Last updated: 3/31/2011

References
  • Heyroth-Griffis CA, Weaver DD, Faught P, Bellus GA, Torres-Martinez W. On the Spectrum of Limb-Body Wall Complex, Exstrophy of the Cloaca, and Urorectal Septum Malformation Sequence. Am. J. Med. Genet. Part A . 2007;
  • Levy R, Lacombe D, Rougier Y, Camus E. Limb Body Wall Complex and Amniotic Band Sequence in Sibs. Am. J. Med. Genet. Part A. 2007;
Other Names for this Disease
  • Aplasia of the cord
  • Body stalk anomaly
  • Cyllosomas
  • Limb body wall complex
  • Short umbilical cord syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.