{"orpha":88643,"name":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88643/","orphanet_url":"https://www.orpha.net/en/disease/detail/88643","names":{"fr":{"name":"Syndrome d'obésité-colite-hypothyroïdie-hypertrophie cardiaque-retard de développement","definition":"Syndrome d'obésité-colite-hypothyroïdie-hypertrophie cardiaque-retard de développement se caractérise par une obésité précoce, un hyperthyroïdisme congénital, une colite néonatale, une hypertrophie cardiaque, une craniosynostose et un retard de développement. Il a été décrit chez deux frères, dont l'un est décédé avant l'âge de deux mois. Les deux enfants sont nés de parents sains et non consanguins mais les grossesses furent compliquées par un syndrome maternel HELLP (enzymes hépatiques élevées, hémolyse, thrombopénie). Le mode de transmission n'est pas clairement établi à ce jour."},"de":{"name":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome","definition":"Dieses Syndrom ist charakterisiert durch früh auftretende Adipositas, kongenitale Hypothyreose, Neugeborenen-Kolitis, hypertrophische Kardiomyopathie, Kraniosynostose und Entwicklungsverzögerung."},"es":{"name":"Síndrome de obesidad-colitis-hipotiroidismo-hipertrofia cardíaca-retraso del desarrollo","definition":"Es un trastorno caracterizado por obesidad precoz, hipotiroidismo congénito, colitis neonatal, hipertrofia cardíaca, craneosinostosis y retraso del desarrollo. Se ha descrito en dos hermanos, uno de los cuales falleció en el primer mes de vida. Los padres no eran consanguíneos y gozaban de buena salud; sin embargo, los embarazos se complicaron por un síndrome HELLP materno (hemólisis, enzimas hepáticas elevadas y bajo recuento plaquetario). El modo de herencia aún no se ha establecido con certeza."},"it":{"name":"Obesità - colite - ipotiroidismo - ipertrofia cardiaca - ritardo dello sviluppo"},"nl":{"name":"Obesitas - colitis - hypothyreoïdie - cardiale hypertrofie - ontwikkelingsachterstand-syndroom","definition":"Obesitas - colitis - hypothyreoïdie - hypertrofie van hart - ontwikkelingsachterstand-syndroom wordt gekenmerkt door vroegtijdige obesitas, congenitale hypothyreoïdie, neonatale colitis, hypertrofie van hart, craniosynostose en ontwikkelingsachterstand. Het werd beschreven bij twee broers, waarvan één stierf binnen de eerste levensmaand. De ouders van de twee kinderen waren niet bloedverwant en in goede gezondheid, maar de zwangerschappen werden gecompliceerd door maternaal HELLP-syndroom (hemolyse, verhoogde leverenzymen, en laag aantal bloedplaatjes). De manier van overerving werd nog niet duidelijk vastgesteld."},"pt":{"name":"Síndrome de obesidade-colite-hipotiroidismo-hipertrofia cardíaca-perturbação do desenvolvimento"},"pl":{"name":"Otyłość - zapalenie jelit - niedoczynność tarczycy - przerost serca - opóźnienie rozwoju"},"cs":{"name":"Syndrom zahrnující obezitu, kolitidu, hypotyreózu, hypertrofii srdce a opoždění vývoje"},"uk":{"name":"Синдром ожиріння-коліту-гіпотиреозу-гіпертрофії серця-затримки розвитку","definition":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established."},"zh":{"name":"肥胖-结肠炎-甲状腺功能减退症-心肌肥厚-发育迟缓综合征"},"tr":{"name":"Obezite-kolit-hipotiroidi-kardiyak hipertrofi-gelişme geriliği sendromu"}},"xrefs":[{"source":"ICD-10","code":"E03.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019506","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302879","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17163533[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17163533[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-31","source":"17163533[PMID]","terms":[{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002583","label":"Colitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null}]}}