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Disease Profile

Limb-body wall complex

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Short umbilical cord syndrome; Umbilical cord, short; Body stalk anomaly;


Congenital and Genetic Diseases; Digestive Diseases


Limb-body wall complex (LBWC) is a condition characterized by multiple, severe congenital abnormalities in a fetus. It typically results in openings in the anterior body wall (chest and belly) and defects of the limbs (arms and legs). Other features of LBWC may include facial clefts; a short or missing umbilical cord; scoliosis; neural tube defects; and abnormalities of the urogenital organs (i.e. kidney, bladder, and/or genitals). The exact cause of LBWC is unclear. Unfortunately, there is no cure for LBWC and it is considered to be incompatible with life (fatal).[1][2][3] The majority of affected pregnancies end in fetal demise.[4]


Limb-body wall complex (LBWC) is a congenital condition that is characterized by abnormalities in the anterior body wall (chest and belly) and/or limbs (arms and legs). Infants affected by LBWC have at least two of the following features:[1][2]

  • Exencephaly a neural tube defect in which the brain and surrounding tissues protrude through a defect in the skull
  • Facial clefts
  • Abdominoschisis protrusion of the organs (including those found in the chest and/or abdomen) through a defect in the abdominal wall
  • Limb abnormalities such as club foot; brachydactyly (unusually short toes); extra or missing toes; syndactyly; and/or amelia (absence of a limb)

Other signs and symptoms may include a short or missing umbilical cord; scoliosis; amniotic bands; and defects of the urogenital organs (i.e. kidney, bladder, and/or genitals).[1][2]


The exact underlying cause of limb-body wall complex (LBWC) is currently unknown. However, scientist have proposed the following three theories as possible explanations for the condition:[1][2]

(1) Amniotic bands LBWC occurs when the amniotic sac (the fluid-filled sac that surrounds the baby) breaks early, leading to the development of amniotic bands. These bands can cause amputations and constrictions in the developing baby. The timing of this event may explain the varying severity from case to case.

(2) Vascular "disruption" LBWC is caused by a disruption of blood flow in the developing baby. This is a common explanation for certain types of birth defects, especially limb abnormalities.

(3) Abnormal embryonic folding Early in development, the embryo folds to ensure the proper development and placement of different body parts and organs. If this event doesn't take place or if the embryo folds abnormally, it could lead to the various signs and symptoms associated with LBWC.

The majority of cases are considered to be sporadic, regardless of underlying cause and recurrence risk is considered to be low; however, there is at least one case reported in the medical literature of a woman having two different pregnancies with LBWC.[5]

Recently, some authors have proposed a potential genetic origin of LBWC involving mutations in genes related to laterality (left or right side of the body) and caudal development (the lower half of the body). More genetic studies on infants with LBWC are needed to prove this connection.[6]


A diagnosis of limb-body wall complex (LBWC) is based on the presence of characteristic signs and symptoms. These features are often seen on prenatal ultrasound or during a physical examination shortly after birth.[1][2]


Unfortunately, there is no cure for limb-body wall complex and it is generally considered to be incompatible with life (fatal).[1][2][3]


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • 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 Limb-body wall complex. Click on the link to view a sample search on this topic.


        1. Courtney D Stephenson, DO; Charles J Lockwood, MD, MHCM; Andrew P MacKenzie, MD. Body stalk anomaly and cloacal exstrophy. UptoDate. November 2014; Accessed 4/2/2015.
        2. Keerthi Kocherla, Vasantha Kumari, and Prasada Rao Kocherla. Prenatal diagnosis of body stalk complex: A rare entity and review of literature. Indian J Radiol Imaging. Jan-Mar 2015; 25(1):67-70. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329692/.
        3. Panduranga Chikkannaiah, Hema Dhumale, Ranjit Kangle, and Rosini Shekar. Limb Body Wall Complex: A Rare Anomaly. J Lab Physicians. Jan-Jun 2013; 5(1):65-67. https://www-ncbi-nlm-nih-gov.ezproxy.nihlibrary.nih.gov/pmc/articles/PMC3758712/.
        4. Bhat A, Ilyas M, Dev G. Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly. Radiol Case Rep. March 15, 2016; 11(2):116-120.
        5. B. Luehr, J. Lipsett, J. A. Quinlivan. Limb–body wall complex: a case series. The Journal of Maternal–Fetal and Neonatal Medicine. 2002; 12:132-137. https://www.ncbi.nlm.nih.gov/pubmed/12420845.
        6. David C. Gajzer, Alicia Cristina Hirzel, Gaurav Saigal, Claudia Patricia Rojas, Maria Matilde Rodriguez. Possible Genetic Origin of Limb-Body Wall Complex. Fetal And Pediatric Pathology. July 4, 2015; 34(4):257-270. https://www-ncbi-nlm-nih-gov.ezproxy.nihlibrary.nih.gov/pmc/articles/PMC4673583/.
        7. Gazolla AC, da Cunha AC, Telles JA, Betat Rda S, Romano MA, Marshall I, Gobatto AM, de H Bicca AM, Arcolini CP, Dal Pai TK, Vieira LR, Targa LV, Betineli I, Zen PR, Rosa RF. Limb-body wall defect: experience of a reference service of fetal medicine from Southern Brazil. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):739-49. October 2014; 100(10):739-749.

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