ORPHA:2369
Limb body wall complex
Synonyms: Body stalk anomaly · LBWC syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Limb body wall complex | Body stalk anomaly · LBWC syndrome |
| fr | Complexe limb body wall | Syndrome LBWC |
| de | Gliedmaßen-Körperwand-Defekt | Body-Stalk-Anomalie · LBWC-Syndrom |
| es | Complejo extremidad-pared abdominal | Anomalía del tallo corporal · Síndrome LBWC |
| it | Complesso ''limb body wall'' | Sindrome LBWC |
| nl | Ledemaat - lichaamswand-complex | 'Body-stalk'-anomalie · 'Limb body wall'-complex · Anomalie van hechtsteel · LBWC-syndroom |
| pt | Complexo parede abdominal-membros | Síndrome LBWC |
| pl | Zespół braku pępowiny | Zespół LBWC |
| cs | Komplex končetina-stěna tělní | LBWC syndrom |
| uk | Limb Body Wall Complex (LBWC) | Аномалія стебла тіла · Синдром LBWC |
| zh | 肢体-体壁综合征 | 体蒂异常 |
| tr | Ekstremite vücut duvarı kompleksi | LBWC sendromu · Body stalk anomalisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0016528 | E | validated | |
| UMLS | C4274839 | E | validated | |
| GARD | 3251 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Australia | Value and class | Validated | 12420845[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Japan | Value and class | Validated | 8092190[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.4 / 100 000 | Europe | Value and class | Validated | 36584346[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
49 annotations · validated 2020-12-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010866 | Abdominal wall defect | |
| HP:0011418 | Abnormal insertion of umbilical cord | |
| HP:0040064 | Abnormality of limbs | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0006711 | Aplasia/Hypoplasia involving bones of the thorax | |
| HP:0001631 | Atrial septal defect | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001683 | Ectopia cordis | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0001196 | Short umbilical cord | |
| HP:0005257 | Thoracic hypoplasia | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| HP:0001392 | Abnormality of the liver | |
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0009775 | Amniotic constriction ring | |
| HP:0002323 | Anencephaly | |
| HP:0007385 | Aplasia cutis congenita of scalp | |
| HP:0010242 | Aplasia of the proximal phalanges of the hand | |
| HP:0006496 | Aplasia/hypoplasia involving bones of the upper limbs | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0010055 | Broad hallux | |
| HP:0000453 | Choanal atresia | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0007957 | Corneal opacity | |
| HP:0010554 | Cutaneous finger syndactyly | |
| HP:0010541 | Cutis gyrata of scalp | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001540 | Diastasis recti | |
| HP:0004275 | Duplication of hand bones | |
| HP:0002084 | Encephalocele | |
| HP:0006368 | Forearm reduction defects | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000612 | Iris coloboma | |
| HP:0001132 | Lens subluxation | |
| HP:0002475 | Myelomeningocele | |
| HP:0008458 | Progressive congenital scoliosis | |
| HP:0001195 | Single umbilical artery | |
| HP:0002414 | Spina bifida | |
| HP:0003298 | Spina bifida occulta | |
| HP:0001839 | Split foot | |
| HP:0100656 | Thoracoabdominal wall defect | |
| HP:0002933 | Ventral hernia | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 24928524[PMID]_31556549[PMID]_28540190[PMID]_2962493[PMID]_26436108[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2369
- This record as JSON: /data/d/2369.json