{"orpha":1388,"name":"Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pierre-Robin sequence-hyperphalangy and clinodactyly of the index finger syndrome"],"definition":"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1388/","orphanet_url":"https://www.orpha.net/en/disease/detail/1388","names":{"fr":{"name":"Syndrome de séquence de Pierre Robin-dysostose de Manzke-clinodactylie du doigt index","synonyms":["Syndrome de séquence de Pierre Robin-hyperphalangie et clinodactylie du doigt index"],"definition":"Le syndrome de Catel-Manzke est une maladie osseuse rare caractérisée par une hyperphalangie et une clinodactylie de l'index bilatérales, généralement associée à la séquence de Pierre Robin comprenant une micrognathie, une fente palatine et une glossoptose."},"de":{"name":"Catel-Manzke-Syndrom","synonyms":["Palatodigitales Syndrom Typ Catel-Manzke","Pierre-Robin-Sequenz mit Hyperphalangie und Klinodaktylie des Zeigefingers","CATMANS"],"definition":"Das Catel-Manzke-Syndrom ist eine seltene Knochenkrankheit mit beidseitiger Hyperphalangie und Klinodaktylie des Zeigefingers, in typischen Fällen in Verbindung mit den Symptomen der Pierre-Robert-Sequenz (siehe dort): Mikrogenie, Gaumenspalte und Glossoptose."},"es":{"name":"Síndrome de secuencia de Pierre-Robin-disostosis de Manzke-clinodactilia del dedo índice","synonyms":["Síndrome de secuencia de Pierre-Robin-hiperfalangia y clinodactilia del dedo índice"],"definition":"El síndrome de Catel-Manzke es una enfermedad ósea poco frecuente caracterizada por hiperfalangia bilateral y clinodactilia del dedo índice normalmente asociado con la secuencia de Pierre Robin (consulte este término) que incluye micrognatia, paladar hendido y glosoptosis."},"it":{"name":"Sindrome sequenza di Pierre-Robin-disostosi di Manzke-clinodattilia del dito indice","synonyms":["Sindrome sequenza di Pierre-Robin-iperfalangia e clinodattilia del dito indice"],"definition":"La sindrome di Catel-Manzke è una malattia scheletrica rara, caratterizzata da iperfalangia bilterale e clinodattilia del dito indice associata, tipicamente, alla sequenza di Pierre Robin (si veda questo termine), con micrognazia, palatoschisi e glossoptosi."},"nl":{"name":"Pierre Robin sequentie - Manzke-dysostose - clinodactylie van wijsvinger-syndroom","synonyms":["Pierre Robin sequentie - hyperfalangie en clinodactylie van wijsvinger-syndroom"],"definition":"Syndroom van Catel-Manzke is een zeldzame botziekte en wordt gekarakteriseerd door bilaterale hyperfalangie en clinodactylie van de wijsvinger, typisch geassocieerd met Pierre Robin sequentie (zie deze term) die micrognathie, gespleten verhemelte en glossoptosis omvat."},"pt":{"name":"Síndrome Catel-Manzke","synonyms":["Síndrome Pierre-Robin-hiperfalangia-clinodactilia"]},"pl":{"name":"Zespół Catela i Manzkego","synonyms":["Anomalia palca wskazującego - zespół Pierre'a i Robina","Hiperfalangia-klinodaktylia palca wskazującego z zespołem Pierre'a i Robina","Micrognathia digital syndrome","Sekwencja Pierre'a i Robina - hiperfalangia - klinodaktylia","Zespół Pierre'a i Robina - hiperfalangia - klinodaktylia","Zespół Pierre'a i Robina z hiperfalangią i klinodaktylią","Zespół podniebienno-palcowy, typ Catela i Manzke"]},"cs":{"name":"Catelův-Manzkeho syndrom","synonyms":["Hyperfalangie a klinodaktylie ukazováku s Pierre Robinovým syndromem","Mikrognatie-digitální syndrom","Syndrom zahrnující Pierre Robinovu sekvenci, hyperfalangii a klinodaktylii","Anomálie ukazováku a Pierre Robinův syndrom","Palatodigitální syndrom, Catelův-Manzkeho typ","Syndrom zahrnující Pierre Robinův syndrom, hyperfalangii a klinodaktylii","Catel-Manzkeho syndrom","Palatodigitální syndrom, Catel-Manzkeho typ"]},"uk":{"name":"Синдром Кателя - Манцке","synonyms":["Гіперфалангія-клінодактилія вказівного пальця при синдромі Пєра Робена","Аномалія вказівного пальця - синдром Пєра Робена","Мікрогнатія-дігітальний синдром","Палатодігітальний синдром, тип Кателя-Манцке","Синдром послідовності Пєра Робена- гіперфалангії-клінодактилії","Синдром Пєра Робена - гіперфалангічно-клінодактильний синдром"],"definition":"Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis."},"zh":{"name":"Catel-Manzke综合征","synonyms":["多指-食指弯曲畸形伴Pierre Robin综合征"]},"tr":{"name":"Catel-Manzke sendromu","synonyms":["Mikrognati dijital sendromu","Palatodijital sendrom, Catel-Manzke tipi","İşaret parmağı anomalisi-Pierre Robin sendromu","Pierre Robin dizisi-hiperfalji-klinodaktili sendromu","Pierre Robin sendromu-hiperfalji-klinodaktili sendromu","Pierre Robin sendromlu işaret parmağında hiperfalanji-klinodaktili"]}},"xrefs":[{"source":"OMIM","code":"616145","qualifier":"E","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":"1023183031"},{"source":"MONDO","code":"0014507","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535347","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844887","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"28","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083949","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TGDS","name":"TDP-glucose 4,6-dehydratase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25480037[PMID]","hgnc":"20324","ensembl":"ENSG00000088451","omim":"616146","loci":["13q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010508","label":"Metatarsus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010285","label":"Oral synechia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009467","label":"Radial deviation of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}