{"orpha":1484,"name":"Contractures-ectodermal dysplasia-cleft lip/palate syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ladda-Zonana-Ramer syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1484/","orphanet_url":"https://www.orpha.net/en/disease/detail/1484","names":{"fr":{"name":"Syndrome de contractures-dysplasie ectodermique-fente labiopalatine","synonyms":["Syndrome de Ladda-Zonana-Ramer"],"definition":"Syndrome dysplasique ectodermique caractérisé par une arthrogrypose sévère, de multiples caractéristiques de dysplasie ectodermique, une fente labiopalatine, une dysmorphie faciale, un retard de croissance et un retard modéré du développement psychomoteur. Les manifestations de la dysplasie ectodermique incluent des cheveux épars, cassants et hypopigmentés, une xérose, des nævi multiples, de petites dents de forme conique et une hypodontie, ainsi qu'une dysmorphie faciale comprenant un blépharophimosis, des yeux profondément implantés et une micrognatie."},"de":{"name":"Kontrakturen-ektodermale Dysplasie-Lippen-Kiefer-Gaumenspalte-Syndrom","synonyms":["Ladda-Zonana-Ramer-Syndrom"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das gekennzeichnet ist durch schwere Arthrogrypose, multiple Zeichen einer ektodermalen Dysplasie, Lippen-Kiefer-Gaumenspalte, faziale Dysmorphien, Kleinwuchs und leicht verzögerte psychomotorische Entwicklung. Zu den Manifestationen der ektodermalen Dysplasie gehören spärliches, brüchiges und hypopigmentiertes Haar, Xerosis, multiple Nävi, kleine konische Zähne und Hypodontie sowie Gesichtsdysmorphien mit Blepharophimose, tiefliegenden Augen und Mikrognathie."},"es":{"name":"Síndrome de contracturas-displasia ectodérmica-fisura labiopalatina","synonyms":["Síndrome de Ladda-Zonana-Ramer"],"definition":"Es un síndrome de displasia ectodérmica que se caracteriza por una artrogriposis grave, rasgos de displasia ectodérmica múltiple, fisura labiopalatina, dismorfismo facial, deficiencia en el crecimiento y un moderado retraso del desarrollo psicomotor. Las manifestaciones de displasia ectodérmica incluyen cabello escaso, frágil e hipopigmentado, xerosis, nevos múltiples, dientes pequeños de forma cónica e hipodoncia, y dismorfia facial con blefarofimosis, ojos hundidos y micrognatia."},"it":{"name":"Contratture - displasia ectodermica - labiopalatoschisi","synonyms":["Sindrome di Ladda-Zonana-Ramer"],"definition":"L'associazione contratture-displasia ectodermica-labio/palatoschisi è una sindrome da displasia ectodermica caratterizzata da artrogriposi grave, segni multipli di displasia ectodermica, labio/palatoschisi, dismorfismi facciali, ritardo della crescita e ritardo moderato dello sviluppo psicomotorio. I segni della displasia ectodermica comprendono i capelli radi, fragili e ipopigmentati, la xerosi, i nevi multipli, i denti piccoli di forma conica, l'ipodontia, i dismorfismi facciali con blefarofimosi, gli occhi infossati, la micrognazia."},"nl":{"name":"Contracturen - ectodermale dysplasie - gespleten lip/gehemelte-syndroom","synonyms":["Syndroom van Ladda-Zonana-Ramer"],"definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekenmerkt door ernstige artrogrypose, meerdere kenmerken van ectodermale dysplasie, gespleten lip/gehemelte, faciale dysmorfie, groeiachterstand en matige psychomotorische ontwikkelingsachterstand. Manifestaties van ectodermale dysplasie zijn onder meer schaars, broos en gehypopigmenteerd haar, xerodermie, multipele naevi, kleine kegelvormige tanden en hypodontie, en faciale dysmorfie met blefarofimose, diepliggende ogen en micrognathie."},"pt":{"name":"Síndrome de contraturas-displasia ectodérmica-fenda lábio-palatina","synonyms":["Síndrome Ladda-Zonana-Ramer","Síndrome de artrogripose-displasia ectodérmica-fenda lábio-palatina"]},"pl":{"name":"Przykurcze - dysplazja ektodermalna- rozszczep wargi/podniebienia","synonyms":["Zespół Ladda, Zonana i Ramera"],"definition":"Rzadki zespół dyplazji ektodermalnej, który charakteryzuje się ciężką artrogrypozą, licznymi cechami dysplazji ektodermalnej, rozszczepem wargi/podniebienia, dysmorfią twarzy, niedoborem wzrostu i umiarkowanym opóźnieniem rozwoju psychoruchowego. Objawy dysplazji ektodermalnej obejmują rzadkie, łamliwe i odbarwione włosy, suchość skóry, liczne znamiona, małe stożkowate zęby i hipodoncję oraz dysmorfię twarzy ze zwężeniem szpar powiekowych, głęboko osadzonymi oczami i mikrognacją."},"cs":{"name":"Syndrom zahrnující kontraktury, ektodermální dysplázii a rozštěp rtu/patra","synonyms":["Laddův-Zonanův-Ramerové syndrom","Ladda-Zonana-Ramerové syndrom"]},"uk":{"name":"Синдром контрактури-ектодермальної дисплазії-розщілини губи/піднебіння","synonyms":["Синдром Ладда-Зонана-Рамера"],"definition":"A rare ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia."},"zh":{"name":"关节挛缩-外胚层发育不良-唇/腭裂综合征","synonyms":["Ladda-Zonana-Ramer综合征"]},"tr":{"name":"Kontraktürler-ektodermal displazi-yarık dudak / damak sendromu","synonyms":["Ladda-Zonana-Ramer sendromu"]}},"xrefs":[{"source":"OMIM","code":"301815","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"425109773"},{"source":"MONDO","code":"0010531","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538135","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931745","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1515","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7504881[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7504881[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null}]}}