{"orpha":293843,"name":"3MC syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Craniofacial-ulnar-renal syndrome","Malpuech-Michels-Mingarelli-Carnevale syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293843/","orphanet_url":"https://www.orpha.net/en/disease/detail/293843","names":{"fr":{"name":"Syndrome 3MC","synonyms":["Syndrome Malpuech-Michels-Mingarelli-Carnevale","Syndrome cranio-facio-cubito-rénal"],"definition":"Anomalie du développement rare caractérisée par des malformations congénitales multiples incluant une fente labiale et/ou palatine, une craniosténose, une déficience intellectuelle et/ou des troubles de l'apprentissage, une synostose radio-ulnaire, des malformations génitales et des anomalies vésicorénales. On observe aussi une dysmorphie faciale, incluant un hypertélorisme, un blépharophimosis, un blépharoptosis et des sourcils très arqués. Parmi les malformations moins souvent rapportées, figurent des anomalies de la chambre antérieure de l'oeil des anomalies cardiaques (communication interventriculaire), un appendice caudal, une hernie ombilicale ou omphalocèle et un diastasis recti."},"de":{"name":"3MC-Syndrom","synonyms":["Kranio-fazio-ulnar-renales Syndrom","Malpuech-Michels-Mingarelli-Carnevale-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom mit multiplen kongenitalen Anomalien, das durch ein Spektrum von Entwicklungsanomalien gekennzeichnet ist, darunter Lippen- und/oder Gaumenspalte, Kraniosynostose, Intelligenzminderung und/oder Lernbehinderung, Radioulnarsynostose, genitale und vesikorale Anomalien. Zu den beobachteten Gesichtsdysmorphien gehören Hypertelorismus, Blepharophimose, Blepharoptose und hochgewölbte Augenbrauen. Zu den selteneren Merkmalen gehören Vorderkammerdefekte, Herzanomalien (z. B. Ventrikelseptumdefekt), kaudale Anhängsel, Nabelhernie/Omphalozele und Rektusdiastase."},"es":{"name":"Síndrome 3MC","synonyms":["Síndrome craneofacial-cubital-renal","Síndrome de Malpuech-Michels-Mingarelli-Carnevale"],"definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por un espectro de anomalías del desarrollo que incluye labio leporino y/o paladar hendido, craneosinostosis, discapacidad intelectual y/o problemas cognitivos, sinostosis radiocubital, anomalías genitales y vesicorrenales. La dismorfia facial observada incluye hipertelorismo, blefarofimosis, blefaroptosis y cejas arqueadas. Los rasgos menos comúnmente descritos son: defectos de la cámara anterior, anomalías cardíacas (como la comunicación interventricular), apéndice caudal, hernia umbilical/ onfalocele y diástasis del recto."},"it":{"name":"Sindrome 3MC","synonyms":["Sindrome craniofacciale-ulnare-renale"],"definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da uno spettro di anomalie dello sviluppo (labio/palatoschisi, craniosinostosi), disabilità intellettiva e/o disturbi dell'apprendimento, sinostosi radio-ulnare, anomalie genitali e vescico-renali. I dismorfismi facciali comprendono l'ipertelorismo, la blefarofimosi, la blefaroptosi e le sopracciglia arcuate. Sono meno comuni i difetti della camera anteriore, le cardiopatie (ad es. il difetto del setto interventricolare; si veda questo termine), l'appendice caudale, l'ernia ombelicale/onfalocele e la diastasi dei retti."},"nl":{"name":"3MC-syndroom","synonyms":["Craniofaciaal-ulnair-renaal syndroom","Syndroom van Malpuech-Michels-Mingarelli-Carnevale"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door een spectrum van ontwikkelingsanomalieën, waaronder gespleten lip en/of gehemelte, craniosynostose, intellectuele achterstand en/of leerstoornis, radio-ulnaire synostose, en genitale en vesicorenale anomalieën. Geobserveerde faciale dysmorfie omvat onder meer hypertelorisme, blefarofimose, blefaroptose, en hoog gebogen wenkbrauwen. Minder gangbare kenmerken die worden gerapporteerd, zijn onder meer defecten van voorste oogkamer, hartanomalieën (e.g. ventrikelseptumdefect), caudaal aanhangsel, navelbreuk/omfalocele, en diastasis recti (rectus-diastase)."},"pt":{"name":"Síndrome craniofacial-cubital-renal","synonyms":["Síndrome 3MC"]},"pl":{"name":"Zespół 3MC","synonyms":["Zespół czaszkowo-twarzowo-łokciowo-nerkowy","Zespół Malpuecha, Michelsa, Mingarelli i Carnevale'a"]},"cs":{"name":"3MC syndrom","synonyms":["Kraniofaciální, ulnární a renální syndrom"]},"uk":{"name":"Синдром 3MC","synonyms":["Черепно-лицьово-запястково-нирковий синдром","Синдром Мальпуека-Міхельса-Мінгареллі-Карневале"],"definition":"A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti."},"zh":{"name":"Malpuech-Michels-Mingarelli-Carnevale综合征","synonyms":["Malpuech-Michels-Mingarelli-Carnevale综合征"],"definition":"3MC综合征是一种罕见的发育障碍，它结合了一些以前表型重叠的常染色体隐性遗传病，如Carnevale、Mingarelli、Malpuech和Michels综合征，其特征是一系列发育异常，包括明显的面部畸形（即：眼距过宽、眼睑裂狭小、眼睑下垂和高拱形眉毛）、唇裂和/或腭裂、颅缝早闭、学习障碍、尺桡骨性融合、生殖器和膀胱肾畸形。报告的少见特征包括前房缺损、心脏异常（如室间隔缺损；见本术语）、尾部附属物、脐疝/脐膨出和腹直肌分离。"},"tr":{"name":"3MC sendromu","synonyms":["Kraniyofasiyal-ulnar-renal sendrom","Malpuech-Michels-Mingarelli-Carnevale sendromu"]}},"xrefs":[{"source":"OMIM","code":"248340","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"257920","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"265050","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"1294329406"},{"source":"MONDO","code":"0017398","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1118","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2453,"name":"Malpuech syndrome","status":"inactive"},{"type":"Moved to","orpha":2506,"name":"Michels syndrome","status":"inactive"},{"type":"Moved to","orpha":2998,"name":"Carnevale syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"COLEC11","name":"collectin subfamily member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21258343[PMID]","hgnc":"17213","ensembl":"ENSG00000118004","omim":"612502","loci":["2p25.3"]},{"symbol":"MASP1","name":"MBL associated serine protease 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21258343[PMID]","hgnc":"6901","ensembl":"ENSG00000127241","omim":"600521","loci":["3q27.3"]},{"symbol":"COLEC10","name":"collectin subfamily member 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28301481[PMID]","hgnc":"2220","ensembl":"ENSG00000184374","omim":"607620","loci":["8q24.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"21258343[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21258343[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-03","source":"16096999[PMID]","terms":[{"hpo":"HP:0000537","label":"Epicanthus inversus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006394","label":"Limited pronation/supination of forearm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002265","label":"Large fleshy ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002825","label":"Caudal appendage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040016","label":"Prominent coccyx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}