{"orpha":2301,"name":"Congenital short bowel syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2301/","orphanet_url":"https://www.orpha.net/en/disease/detail/2301","names":{"fr":{"name":"Syndrome du grêle court congénital","synonyms":["SGC congénital","Syndrome de l'intestin court congénital"],"definition":"Le syndrome du grêle court congénital est un trouble intestinal rare des nouveau-nés d'étiologie inconnue. Les patients naissent avec un intestin grêle court (moins de 75 cm de long) compromettant l'absorption intestinale se manifestant par une diarrhée chronique, des vomissements et un retard de croissance staturo-pondérale."},"de":{"name":"Kurzdarm-Syndrom, kongenitales","definition":"Das Kongenitale Kurzdarmsyndrom ist eine seltene Darmerkrankung des Neugeborenen mit unbekannter Ursache. Die Patienten werden mit einem weniger als 75 cm langen Darm geboren. Eine normale Resorption im Darm ist nicht möglich. Die Folgen sind chronische Diarrhoe, Erbrechen und Gedeihstörung."},"es":{"name":"Síndrome de intestino corto congénito","definition":"El intestino corto congénito es un trastorno intestinal poco frecuente de los recién nacidos de etiología desconocida. Los pacientes nacen con un intestino delgado corto (menor de 75 cm de longitud) que compromete la absorción intestinal correcta y conduce a una diarrea crónica, vómitos y retraso en el desarrollo."},"it":{"name":"Sindrome dell'intestino corto congenito","definition":"La sindrome dell'intestino corto congenito è un disturbo intestinale raro, che si manifesta nei neonati e che ha un'eziologia sconosciuta. I pazienti nascono con un intestino tenue corto (lunghezza inferiore ai 75 cm), che compromette il corretto assorbimento intestinale e provoca diarrea cronica, vomito e ritardo della crescita."},"nl":{"name":"Congenitaal kortedarmsyndroom","definition":"Een zeldzame darmaandoening bij neonaten met ongekende etiologie. Patiënten worden geboren met een korte dunne darm (met een lengte kleiner dan 75 cm), wat adequate intestinale absorptie verstoort en leidt tot chronische diarree, braken en groeifalen."},"pt":{"name":"Congenital short bowel syndrome"},"pl":{"name":"Wrodzony zespół krótkiego jelita"},"cs":{"name":"Vrozený syndrom krátkého střeva"},"uk":{"name":"Синдром вродженої короткої кишки","definition":"Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive."},"zh":{"name":"先天性短肠综合征"},"tr":{"name":"Doğumsal kısa bağırsak sendromu"}},"xrefs":[{"source":"OMIM","code":"300048","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615237","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q43.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB15.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1672462112"},{"source":"MONDO","code":"0014097","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5441717","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108967,"name":"Non-syndromic intestinal malformation","classifications":[147,156,182,233]},{"orpha":365563,"name":"Primary short bowel syndrome","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"CLMP","name":"CXADR like cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22155368[PMID]","hgnc":"24039","ensembl":"ENSG00000166250","omim":"611693","loci":["11q24.1"]},{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23037936[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":43.0,"area":"Worldwide","status":"Validated","source":"21042453[PMID]_22155368[PMID]_27352967[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21042453[PMID]_22155368[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005245","label":"Intestinal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Occasional (29-5%)","criteria":null}]}}