Body-stalk anomaly, also referred to as limb-body wall complex, is a severe congenital defect of the abdominal wall and spine. This condition is characterized by the presence of at least two of three abnormalities: (1) a split in the abdominal wall (abdominoschisis) which results in the abdominal organs partially or completely existing outside of the abdomen (thoracoschisis), (2) a facial cleft in conjunction with a cephalic disorder that results in the brain existing outside of the skull, whether as the result of an encephalocele or a defect of formation of the skull, and (3) a limb defect. This condition may also be characterized by short umbilical cord syndrome and an abnormal curvature of the spine.
Body-stalk anomaly is the rarest, most severe form of fetal abdominal wall defects, with an approximate incidence rate of 1 in 7,500 pregnancies. It is typically diagnosed between 10 and 20 weeks’ gestation via ultrasound. Body-stalk anomaly has a high rate of miscarriage, and in cases where the pregnancy continues to term, it is uniformly fatal in the perinatal period.
Body-stalk anomaly is not associated with aneuploidy; though, it is associated with other anomalies such as amniotic band syndrome (present in 40% of cases), neural tube defects, oligohydramnios, and malformations of major organ systems. The recurrence risk for body-stalk anomaly is almost non-existent.