Limb-body wall complex

Overview

Type of disease: Rare conditions

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.   Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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