{"orpha":2017,"name":"Sternal cleft","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Sternum bifidum","Cleft sternum"],"definition":"A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2017/","orphanet_url":"https://www.orpha.net/en/disease/detail/2017","names":{"fr":{"name":"Fente sternale","synonyms":["Sternum bifidum"],"definition":"Malformation thoracique congénitale idiopathique rare caractérisée par un défaut de fusion des barres sternales, qui peut être complet ou partiel (supérieur ou inférieur), généralement asymptomatique pendant la période néonatale (à l'exception d'une protrusion thoracique paradoxale sur la ligne médiane), lequel, en l'absence de traitement, peut entraîner une dyspnée, une toux, des infections respiratoires fréquentes et un risque accru de lésion traumatique du coeur, des poumons et des principaux vaisseaux."},"de":{"name":"Sternum-Spalte","synonyms":["Sternum bifidum"],"definition":"Eine seltene idiopathische angeborene Fehlbildung des Brustkorbs, die durch einen vollständigen oder teilweisen (entweder superioren oder inferioren) Sternumfusionsdefekt gekennzeichnet ist, der in der Neugeborenenperiode in der Regel asymptomatisch ist (abgesehen von einer paradoxen Vorwölbung der Mittellinie des Brustkorbs), aber zu Dyspnoe, Husten, häufigen Atemwegsinfektionen und einem erhöhten Risiko von traumabedingten Verletzungen des Herzens, der Lunge und der großen Gefäße führen kann, wenn er unbehandelt bleibt."},"es":{"name":"Hendidura esternal","synonyms":["Celosomia torácica"],"definition":"La hendidura esternal es una malformación torácica congénita idiopática poco frecuente caracterizada por un defecto de fusión esternal, que puede ser completo o parcial (bien superior o inferior), que es por lo general asintomático durante el período neonatal (al margen de una protuberancia torácica paradójica en la línea media) pero que puede conllevar a disnea, tos, infecciones respiratorias frecuentes y un riesgo incrementado de trauma relacionado con lesiones cardiacas, pulmonares y de los grandes vasos sanguíneos, si no se trata."},"it":{"name":"Schisi sternale","synonyms":["Celosomia toracica"],"definition":"La schisi dello sterno (SC) è una malformazione toracica congenita idiopatica rara, caratterizzata da un difetto della fusione dello sterno, che può essere totale o parziale (superiore oppure inferiore); di solito è asintomatica nel periodo neonatale (ad eccezione della sporgenza paradossa del torace sulla linea mediana), ma, se non trattata, può causare dispnea, tosse, infezioni respiratorie ricorrenti ed un aumento del rischio di danni cardiaci, polmonari e dei principali vasi, secondari a traumi."},"nl":{"name":"Sternale splijting","synonyms":["Gespleten sternum","Sternale bifurcatie"],"definition":"Een zeldzame idiopathische congenitale malformatie van thorax, gekarakteriseerd door defecte fusie van sternum, volledig of partieel (superieur of inferieur), die meestal asymptomatisch is in de neonatale periode (behalve een paradoxale thoracale uitpuiling op de middellijn) maar zonder behandeling kan leiden tot dyspneu, hoest, frequente respiratoire infecties, en verhoogd risico op aan trauma gerelateerd letsel van hart, longen en grote bloedvaten."},"pt":{"name":"Fenda do esterno","synonyms":["Celossomia torácica"]},"pl":{"name":"Rozszczep mostka","synonyms":["Rozszczep mostka","Sternum bifidum"]},"cs":{"name":"Sternální rozštěp","synonyms":["Sternum bifidum","Rozštěp sterna"]},"uk":{"name":"Розщеплення (незарощення) грудини","synonyms":["Розщеплення грудини","Подвоєння грудини (Sternum bifidum)"],"definition":"A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated."},"zh":{"name":"胸骨裂","synonyms":["对裂胸骨"]},"tr":{"name":"Sternal yarık","synonyms":["Yarık sternum","Sternum bifidum"]}},"xrefs":[{"source":"ICD-10","code":"Q76.7","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB73.13","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1308914573"},{"source":"MONDO","code":"0016066","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537489","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931507","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5012","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180776,"name":"Non-syndromic diaphragmatic or thoracic malformation","classifications":[186]},{"orpha":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-17","source":"31971714[PMID]_36269683[PMID]","terms":[{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010309","label":"Bifid sternum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null}]}}