Limb-body wall complex

Other Names: Short umbilical cord syndrome; Umbilical cord, short; Body stalk anomaly; Aplasia of the cord; Cyllosomas; Limb body wall complex

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).

Cause

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) 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.

Inheritance

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. 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.

Signs and symptoms

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:

• 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).

Diagnosis

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.

Treatment

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

Prognosis

Unfortnately, the long-term outlook (prognosis) for infants affected by limb-body wall complex (LBWC) is poor. LBWC is generally considered to be a lethal condition. Many affected pregnancies end in miscarriage or stillbirth. Most infants who survive the prenatal period pass away shortly after birth.

NIH genetic and rare disease info

• NIH info on Limb-body wall complex

Limb-body wall complex is a rare disease.

Limb-body wall complex Resources
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