Limb body wall complex

ORPHA: 2369

Overview

Limb body wall complex (LBWC) is characterized 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

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Limb body wall complex, sourced from HPO and Orphanet clinical annotations.

Abdominal wall defectAbnormal insertion of umbilical cordAbnormality of limbsAbnormality of the kidneyAbnormal thorax morphologyCongenital diaphragmatic herniaAbnormality of the vertebral columnShort umbilical cordAbnormal heart morphologyVentricular septal defectAtrial septal defectEctopia cordisMorphological central nervous system abnormalityThoracic hypoplasiaAplasia/Hypoplasia involving bones of the thoraxCleft palateHydrocephalusHypertelorismWide nasal bridgeChoanal atresiaIris colobomaLens subluxationSingle umbilical arteryAbnormality of the liverDiastasis rectiBilateral talipes equinovarusSplit footEncephaloceleAbnormal spinal cord morphologyAbnormal intestine morphologyAnencephalySpina bifidaMyelomeningoceleVentral herniaSpina bifida occultaDuplication of hand bonesDepressed nasal bridgeForearm reduction defectsAplasia/hypoplasia involving bones of the upper limbsAplasia cutis congenita of scalpCorneal opacityProgressive congenital scoliosisAmniotic constriction ringBroad halluxAplasia of the proximal phalanges of the handCutis gyrata of scalpCutaneous finger syndactylyThoracoabdominal wall defectCleft lip

Classification & Codes

Orphanet Code

ORPHA:2369
Limb body wall complex
OrphanetORPHA:2369
Treatments0 drug(s)
Symptoms on record49 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO