limb body wall complex
MONDO:0016528Mondo
Findings
No curated finding names limb body wall complex yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016528), read 2026-09-29. CC BY 4.0.
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal wall defectHPOHP:0010866
- Very frequent (80% to 99% of cases)
- Abnormal insertion of umbilical cordHPOHP:0011418
- Very frequent (80% to 99% of cases)
- Abnormality of limbsHPOHP:0040064
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Frequent (30% to 79% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Frequent (30% to 79% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia involving bones of the thoraxHPOHP:0006711
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
- Frequent (30% to 79% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Frequent (30% to 79% of cases)
- Ectopia cordisHPOHP:0001683
- Frequent (30% to 79% of cases)
- Morphological central nervous system abnormalityHPOHP:0002011
- Frequent (30% to 79% of cases)
Show the remaining 37
- Short umbilical cordHPOHP:0001196
- Frequent (30% to 79% of cases)
- Thoracic hypoplasiaHPOHP:0005257
- Frequent (30% to 79% of cases)
- Ventricular septal defectHPOHP:0001629
- Frequent (30% to 79% of cases)
- Abnormal intestine morphologyHPOHP:0002242
- Occasional (5% to 29% of cases)
- Abnormal spinal cord morphologyHPOHP:0002143
- Occasional (5% to 29% of cases)
- Abnormality of the liverHPOHP:0001392
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: limb body wall complex
- Also called
- LBWC syndrome