{"orpha":3253,"name":"Cleft lip/palate-ectodermal dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CLPED1","Cleft lip/palate-syndactyly-pili torti syndrome","Syndactyly-ectodermal dysplasia-cleft/lip palate","Zlotogora-Ogur syndrome"],"definition":"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3253/","orphanet_url":"https://www.orpha.net/en/disease/detail/3253","names":{"fr":{"name":"Syndrome de fente labiopalatine-dysplasie ectodermique","synonyms":["Syndrome de Zlotogora-Ogur","Syndrome de fente labiopalatine-syndactylie-pili torti","Syndrome de syndactylie-dysplasie ectodermique-fente labiopalatine"],"definition":"Le syndrome de Zlotogora-Ogur est un syndrome de dysplasie ectodermique caractérisé par des anomalies capillaires, cutanées et dentaires, une dysmorphie faciale avec fente labio-palatine, une syndactylie cutanée et, dans certains cas, un déficit intellectuel."},"de":{"name":"Lippen-Kiefer-Gaumen-Spalte-ektodermale Dysplasie-Syndrom","synonyms":["CLPED1","Lippen-Kiefer-Gaumen-Spalte-Syndaktylie-Pili torti-Syndrom","Syndaktylie-ektodermale Dysplasie-Lippen-Kiefer-Gaumen-Spalte-Syndrom","Zlotogora-Ogur-Syndrom"],"definition":"Das Zlotogora-Ogur-Syndrom ist ein Ektodermale-Dysplasie-Syndrom. Kennzeichnend sind: Anomalien der Haare, der Haut und der Zähne, faziale Dysmorphien mit Lippen-Kiefer-Gaumenspalte, kutane Syndaktylie und in einigen Fällen intellektuelle Behinderung."},"es":{"name":"Síndrome de labio leporino/paladar hendido-displasia ectodérmica","synonyms":["CLPED1","Sindactilia-displasia ectodérmica-labio leporino/paladar hendido","Síndrome de Zlotogora-Ogur","Síndrome de labio leporino/paladar hendido-sindactilia-pili torti"],"definition":"El síndrome de Zlotogora-Ogur es un síndrome de displasia ectodérmica que se caracteriza por anomalías del cabello, la piel y los dientes, dismorfismo facial con labio y paladar hendidos, sindactilia cutánea y, en algunos casos, discapacidad intelectual."},"it":{"name":"Sindrome labio/palatoschisi-displasia ectodermica","synonyms":["CLPED1","Sindattilia - displasia ectodermica - labio/palatoschisi","Sindrome di Zlotogora-Ogur","Sindrome labio/palatoschisi-sindattilia-pili torti"],"definition":"La sindrome di Zlotogora-Ogur è una sindrome da displasia ectodermica caratterizzata da anomalie dell'apparato pilifero, della cute e dei denti, dismorfismi facciali con labio- e palatoschisi, sindattilia cutanea e, in alcuni casi, disabilità cognitiva."},"nl":{"name":"Gespleten lip/verhemelte - ectodermale dysplasie-syndroom","synonyms":["CLPED1","Gespleten lip/verhemelte - syndactylie - pili torti-syndroom","Syndactylie - ectodermale dysplasie - gespleten lip/verhemelte-syndroom","Syndroom van Zlotogora-Ogur"],"definition":"Zlotogora-Ogursyndroom is een ectodermale dysplasiesyndroom, gekenmerkt door afwijkingen van het haar, de huid en de tanden, faciale dysmorfie met gespleten lip en gehemelte, cutane syndactylie en, in sommige gevallen, een intellectuele achterstand."},"pt":{"name":"Síndrome de fenda labial/palatina-displasia ectodérmica","synonyms":["CLPED1","Síndrome Zlotogora-Ogur","Síndrome de sindactilia-displasia ectodérmica-fenda labial/palatina"]},"pl":{"name":"Zespół Zlotogora i Ogura","synonyms":["CLPED1","Rozszczep wargi/podniebienia-syndaktylia-włosy skręcone","Syndaktylia - dysplazja ektodermalna - rozszczep wargi/podniebienia","Zespół rozszczep wargi/podniebienia-dysplazja ektodermalna","Zespół Zlotogora, Zilbermana i Tenenbauma","CLPED1","Zespół Zlotogora, Zilbermana i Tenenbauma","Zespół rozszczepu wargi/poniebienia i dysplazji ektodermalnej","Zespół rozszczepu wargi/poniebienia, syndaktylii i włosów skręconych","Syndaktylia-dysplazja ektodermalna-rozszczep wargi/podniebienia"]},"cs":{"name":"Zlotogorův-Ogurův syndrom","synonyms":["CLPED1","Syndrom zahrnující rozštěp rtu/patra, syndaktylii a pili torti","Syndaktylie, ektodermální dysplázie a rozštěp patra/rtu","Zlotogorův-Zilbermanův-Tenenbaumův syndrom","Zlotogora-Ogurův syndrom","Zlotogora-Zilberman-Tenenbaumův syndrom"]},"uk":{"name":"Синдром розщілини губи/піднебіння-ектодермальна дисплазія","synonyms":["Синдром розщілини губи/піднебіння- pili torti","CLPED1","Синдактилія - ектодермальна дисплазія - щілина/піднебіння","Синдром Злотогора-Огура"],"definition":"Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability."},"zh":{"name":"唇腭裂-外胚层发育异常综合征","synonyms":["并指（趾）-外胚层发育不良-唇/腭裂"]},"tr":{"name":"Yarık dudak / damak-ektodermal displazi sendromu","synonyms":["CLPED1","Zlotogora-Zilberman-Tenenbaum sendromu","Yarık dudak / damak-sindaktili-pili torti sendromu","Sindaktili-ektodermal displazi-yarık/dudak damak"]}},"xrefs":[{"source":"OMIM","code":"225060","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"720286284"},{"source":"MONDO","code":"0009151","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536726","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931488","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"375","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":90338,"name":"Margarita island ectodermal dysplasia","status":"inactive"},{"type":"Referred to","orpha":101036,"name":"OBSOLETE: Zlotogura-Martinez syndrome","status":"inactive"},{"type":"Referred to","orpha":320317,"name":"OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"NECTIN1","name":"nectin cell adhesion molecule 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10932188[PMID]","hgnc":"9706","ensembl":"ENSG00000110400","omim":"600644","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000674","label":"Anodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}