Caudal Variant of Limb-Body Wall Complex with Sacrococcygeal Mass, Absent Genitalia, and Imperforate Anus: A Case Report from Ethiopia

Limb-Body Wall Complex (LBWC) is a rare and typically lethal congenital anomaly characterized by severe defects of the ventral body wall, limbs, and neural tube. It is considered one of the most severe malformation syndromes. Its etiology remains uncertain, with proposed mechanisms including abnormal embryonic folding, vascular disruption, and early amnion rupture. We report a stillborn neonate delivered at Alem Ketema Enat Hospital, North Shoa, Amhara, Ethiopia, to a 27-year-old multiparous woman with no antenatal care. The neonate presented with multiple congenital anomalies consistent with the caudal variant of LBWC, including a large abdominal wall defect with evisceration of viscera, spinal dysraphism, and limb deformities. Unique to this case was the coexistence of a well-defined skin-covered sacrococcygeal mass distinct from the spinal defect, absence of external genitalia, imperforate anus, and unilateral clubfoot—an unusual constellation of findings rarely documented together in previous reports. The umbilical cord was notably short, further supporting the diagnosis. This case expands the phenotypic spectrum of the caudal variant of LBWC and highlights the diagnostic challenges in low-resource settings where routine prenatal ultrasonography is unavailable. The combination of these caudal defects suggests a failure of early embryonic folding in this region. Early antenatal screening and access to skilled sonography are essential for the timely identification of lethal congenital malformations, appropriate counseling, and informed pregnancy management in such environments. This report serves as the first from Ethiopia documenting this specific presentation, underscoring the urgent need to strengthen anomaly detection programs.