{"orpha":2369,"name":"Limb body wall complex","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Body stalk anomaly","LBWC syndrome"],"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2369/","orphanet_url":"https://www.orpha.net/en/disease/detail/2369","names":{"fr":{"name":"Complexe limb body wall","synonyms":["Syndrome LBWC"],"definition":"Le complexe « limb body wall » (LBWC) est caractérisé par des anomalies congénitales sévères multiples du foetus avec exencéphalie/encéphalocèle, thoraco- et/ou abdominoschisis (malformations pariétales antérieures) et malformations des membres, avec ou sans fentes faciales."},"de":{"name":"Gliedmaßen-Körperwand-Defekt","synonyms":["Body-Stalk-Anomalie","LBWC-Syndrom"],"definition":"Der Gliedmaßen-Körperwand-Komplex (LBWC) ist gekennzeichnet durch multiple schwere Fehlbildungen des Foeten mit Exenzephalie/Enzephalozele, Thorako- und/oder Abdominoschisis (Defekte der vorderen Körperwand), Gliedmaßendefekten und, in einigen Fällen, Gesichtsspalten."},"es":{"name":"Complejo extremidad-pared abdominal","synonyms":["Anomalía del tallo corporal","Síndrome LBWC"],"definition":"El complejo extremidad-pared abdominal (LBWC) se caracteriza por anomalías congénitas múltiples en el feto: exencefalia /encefalocele, toraco- y/o abdominosquisis (anomalías de la pared abdominal) y anomalías de los miembros, con o sin hendiduras faciales."},"it":{"name":"Complesso ''limb body wall''","synonyms":["Sindrome LBWC"]},"nl":{"name":"Ledemaat - lichaamswand-complex","synonyms":["'Body-stalk'-anomalie","'Limb body wall'-complex","Anomalie van hechtsteel","LBWC-syndroom"],"definition":"Ledemaat - lichaamswand-complex (LBWC) wordt gekenmerkt door ernstige multipele congenitale anomalieën bij een foetus, met exencefalie/encefalocele, thoraco- en/of abdominoschisis (defect van anterieure lichaamswand), en ledemaatdefecten, al dan niet met aangezichtsspleten."},"pt":{"name":"Complexo parede abdominal-membros","synonyms":["Síndrome LBWC"],"definition":"O complexo membros parede abdominal (LBWC) é caracterizado por múltiplas anomalias congénitas graves no feto com exencefalia/encefalocelo, toraco e/ou abdominosquisis (deficiências na parede do abdómen anterior), deficiências dos membros, com ou sem fendas faciais."},"pl":{"name":"Zespół braku pępowiny","synonyms":["Zespół LBWC"]},"cs":{"name":"Komplex končetina-stěna tělní","synonyms":["LBWC syndrom"]},"uk":{"name":"Limb Body Wall Complex (LBWC)","synonyms":["Аномалія стебла тіла","Синдром LBWC"],"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."},"zh":{"name":"肢体-体壁综合征","synonyms":["体蒂异常"]},"tr":{"name":"Ekstremite vücut duvarı kompleksi","synonyms":["LBWC sendromu","Body stalk anomalisi"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"353005375"},{"source":"MONDO","code":"0016528","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274839","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3251","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Australia","status":"Validated","source":"12420845[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Japan","status":"Validated","source":"8092190[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.4,"area":"Europe","status":"Validated","source":"36584346[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-09","source":"24928524[PMID]_31556549[PMID]_28540190[PMID]_2962493[PMID]_26436108[PMID]","terms":[{"hpo":"HP:0010866","label":"Abdominal wall defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011418","label":"Abnormal insertion of umbilical cord","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006711","label":"Aplasia/Hypoplasia involving bones of the thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001683","label":"Ectopia cordis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001196","label":"Short umbilical cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009775","label":"Amniotic constriction ring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007385","label":"Aplasia cutis congenita of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010242","label":"Aplasia of the proximal phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006496","label":"Aplasia/hypoplasia involving bones of the upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010554","label":"Cutaneous finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010541","label":"Cutis gyrata of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004275","label":"Duplication of hand bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006368","label":"Forearm reduction defects","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001132","label":"Lens subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008458","label":"Progressive congenital scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100656","label":"Thoracoabdominal wall defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002933","label":"Ventral hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}