Catalog

Limb body wall complex

No MMS code

Link to WHO Definition

Limb body wall complex – http://id.who.int/icd/entity/353005375

Limb body wall complex (LBWC) is characterised by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts. Approximately 250 cases have been reported in the literature so far. Clinical manifestations vary widely and include limb defects and visceral malformations (95% of cases), spinal abnormalities, absent diaphragm, bowel atresia and renal agenesis. LBWC generally presents as a short umbilical cord, abdominal placental attachment, persistence of an extraembryonic celom, anorectal malformations, urogenital abnormalities, lumbosacral meningomyelocele and kyphoscoliosis. A spectrum of LBWC manifestations is included in the amniotic band sequence (see this term), presenting mostly with craniofacial defects, facial clefts, amniotic bands and/or adhesions. At present, it remains unclear whether these two entities represent a single disorder. The etiology of LBWC remains unknown. Karyotypes have been reported as normal and no correlations with gender, parental age and teratogenic agents have been found. The principal theories are an extrinsic origin by early amniotic rupture, or a vascular origin due to an early vascular accident during embryological development. Single cases of familial occurrence have been documented. Diagnosis is based on the presenting features. Early antenatal diagnosis is feasible by ultrasound examination and may be followed by medical termination of the pregnancy. LBWC should be differentiated from gastroschisis (see this term), which has better prognosis. LBWC is fatal, with death occurring during antenatally or early in the neonatal period.