{"orpha":2001,"name":"Cleft lip/palate-intestinal malrotation-cardiopathy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["McPherson-Clemens syndrome"],"definition":"A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2001/","orphanet_url":"https://www.orpha.net/en/disease/detail/2001","names":{"fr":{"name":"Syndrome de fente labiopalatine-malrotation-cardiopathie","synonyms":["Syndrome de McPherson-Clemens"],"definition":"Un syndrome d'anomalies congénitales multiples caractérisé par un visage plat, un hypertélorisme, un occiput plat, des fentes palpébrales obliques en haut et en dehors, une fente palatine, une micrognathie, un cou court et de sévères anomalies cardiaques congénitales. Une malrotation intestinale, une clinodactylie bilatérale, une langue bilobée, des quatrièmes métatarses courtes et des pouces bifides peuvent aussi être observés."},"de":{"name":"Lippen-Kiefer-Gaumenspalte-intestinale Malrotation-Kardiopathie-Syndrom","synonyms":["Mcpherson-Clemens-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das durch ein flaches Gesichtsprofil, Hypertelorismus, flaches Hinterhauptbein, schräg nach oben verlaufende Lidspalten, Gaumenspalte, Mikrognathie, kurzen Hals und schwere angeborene Herzfehler gekennzeichnet ist. Weitere beobachtete Merkmale sind Malrotation des Darms, bilaterale Klinodaktylie, zweilappige Zunge, kurze vierte Mittelfußknochen und gespaltene Daumen."},"es":{"name":"Síndrome de fisura labiopalatina-malrotación intestinal-cardiopatía","synonyms":["Síndrome de Mcpherson-Clemens"],"definition":"Es un síndrome de anomalías congénitas múltiples caracterizado por cara aplanada, hipertelorismo, occipucio plano, fisuras palpebrales ascendentes, paladar hendido, micrognatia, cuello corto y defectos cardiacos congénitos graves. Además, se puede observar malrotación intestinal, clinodactilia bilateral, lengua bilobulada, cuartos metatarsianos cortos y pulgares bífidos."},"it":{"name":"Sindrome da labio/palatoschisi - malrotazione intestinale - cardiopatia","definition":"La sindrome da labio/palatoschisi, malrotazione intestinale e cardiopatia è una malattia da difetti congeniti multipli, caratterizzata da appiattimento del volto, ipertelorismo, occipite piatto, rime palpebrali oblique verso l'alto, palatoschisi, micrognazia, collo corto e cardiopatie gravi. Possono associarsi la malrotazione dell'intestino, la clinodattilia bilaterale, la lingua bilobata, l'accorciamento del quarto metatarso e i pollici bifidi."},"nl":{"name":"Gespleten lip/verhemelte - intestinale malrotatie - cardiopathie-syndroom","synonyms":["Syndroom van McPherson-Clemens"],"definition":"Een zeldzaam syndroom met meervoudige congenitale anomalieën, gekenmerkt door plat gelaat, hypertelorisme, plat achterhoofd, opwaarts hellende ooglidspleten, gespleten gehemelte, micrognathie, korte hals, en ernstige congenitale hartdefecten. Bijkomend kunnen malrotatie van darm, bilaterale clinodactylie, tweelobbige tong, korte vierde metatarsalen en gespleten duimen waargenomen worden."},"pt":{"name":"Síndrome de fenda lábio-palatina-malrotação intestinal-cardiopatia","synonyms":["Síndrome Mcpherson-Clemens"]},"pl":{"name":"Rozszczep wargi/podniebienia - malrotacja jelit - kardiopatia","synonyms":["Zespół McPhersona i Clemensa"],"definition":"Rzadki zespół mnogich wad wrodzonych, który charakteryzuje się płaską twarzą, hiperteloryzmem, płaską potylicą, skośnymi szparami powiekowymi, rozszczepem podniebienia, mikrognacją, krótką szyją i ciężkimi wrodzonymi wadami serca. Dodatkowo można zaobserwować niedokonany zwrot jelit, obustronną klinodaktylię, dwupłatowy język, skrócenie czwartych kości śródstopia oraz rozdwojone kciuki."},"cs":{"name":"Syndrom zahrnující rozštěp rtu/patra, intestinální malrotaci a kardiopatii","synonyms":["McPhersonův-Clemensův syndrom","McPherson-Clemensův syndrom"]},"uk":{"name":"Синдром розщілини губи/піднебіння-кишкової мальротації-кардіопатії","synonyms":["Синдром Макферсона-Клеменса"],"definition":"A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed."},"zh":{"name":"唇/腭裂-肠旋转不良-心脏病综合征","synonyms":["McPherson-Clemens综合征"]},"tr":{"name":"Yarık dudak / damak-bağırsak malrotasyonu-kardiyopati sendromu","synonyms":["McPherson-Clemens sendromu"]}},"xrefs":[{"source":"OMIM","code":"601165","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011008","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931750","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3430","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"8779326[PMID]_9415467[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8779326[PMID]_9415467[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}