{"orpha":1812,"name":"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1812/","orphanet_url":"https://www.orpha.net/en/disease/detail/1812","names":{"fr":{"name":"Syndrome de dysplasie ectodermique-déficience intellectuelle-malformation du système nerveux central","definition":"Le syndrome de dysplasie ectodermique-déficience intellectuelle-malformation du système nerveux central est un syndrome rare d'anomalies multiples du développement. Il se caractérise par la triade de dysplasie ectodermique (surtout hypohydrotique, avec une xérose cutanée et une hypohidrose, ainsi que des cheveux, cils et sourcils clairs et épars), un déficit intellectuel sévère et des anomalies du système nerveux central variables (hypoplasie cérébelleuse, ventricules dilatés, agénésie du corps calleux, malformation de Dandy-Walker). Une dysmorphie craniofaciale caractéristique est associée, comprenant une macrocéphalie, une bosse frontale, une hypoplasie de l'étage moyen de la face, une fente palatine ou un palais ogival, ainsi qu'une cryptorchidie, des difficultés pour s'alimenter et une hypotonie. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1998."},"de":{"name":"Ektodermale Dysplasie-Intelligenzminderung-ZNS-Fehlbildung-Syndrom","synonyms":["Ektodermale Dysplasie mit Intelligenzminderung und Fehlbildung des zentralen Nervensystems"],"definition":"Ein seltenes, multiples Entwicklungsanomalien-Syndrom, das durch die Trias von ektodermaler Dysplasie (meist hypohidrotisch mit trockener Haut und verminderter Schweißbildung und spärlicher, hellem Kopfhaar, Augenbrauen und Wimpern), schwerer Intelligenzminderung und variablen Anomalien des Zentralnervensystems (Kleinhirnhypoplasie, Ventrikeldilatation, Corpus-Callosum-Agenesie, Dandy-Walker-Malformation) gekennzeichnet ist. Ein ausgeprägter kraniofazialer Dysmorphismus mit Makrozephalie, Frontalbuckel, Mittelgesichtshypoplasie und hochgewölbtem oder gespaltenem Gaumen, sowie Kryptorchismus, Fütterungsschwierigkeiten und Hypotonie sind assoziiert. Seit 1998 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de displasia ectodérmica-discapacidad intelectual-malformación del sistema nervioso central","definition":"El síndrome de displasia ectodérmica-discapacidad intelectual-malformación del sistema nervioso central es un síndrome raro debido a anomalías múltiples del desarrollo caracterizado por la tríada de displasia ectodérmica (en su mayoría hipohidrótica con piel seca y sudoración reducida y cabello, cejas y pestañas escasos), discapacidad intelectual grave y anomalías variables del sistema nervioso central (hipoplasia cerebelosa, dilatación de los ventrículos, agenesia del cuerpo calloso, malformación de Dandy-Walker). Se asocia a un dismorfismo craneofacial distintivo con macrocefalia, frente prominente, hipoplasia mediofacial y paladar ojival o hendido, así como criptorquidia, dificultades alimentarias e hipotonía. No hay más descripciones en la literatura desde 1998."},"it":{"name":"Sindrome displasia ectodermica-disabilità intellettiva-malformazioni del sistema nervoso centrale","definition":"La sindrome da displasia ectodermica-disabilità intellettiva-malformazioni del sistema nervoso centrale è una sindrome da anomalie multiple dello sviluppo. E' caratterizzata dalla triade displasia ectodermica (per lo più ipoidrotica con cute secca, riduzione della sudorazione, capelli, sopracciglia e ciglia chiare e rade), grave disabilità intellettiva ed anomalie variabili del sistema nervoso centrale (ipoplasia cerebellare, dilatazione dei ventricoli, agenesia del corpo calloso e malformazione di Dandy-Walker). Si associano dimorfismi cranio-facciali caratteristici, come la macrocefalia, la fronte bombata, l'ipoplasia medio-facciale, il palato ogivale o la palatoschisi, il criptorchidismo, le difficoltà alimentari e l'ipotonia. Non sono stati descritti nuovi casi dopo il 1998."},"nl":{"name":"Ectodermale dysplasie - intellectuele achterstand - malformatie van centraal zenuwstelsel-syndroom","definition":"Ectodermale dysplasie - intellectuele achterstand - malformatie van het centrale zenuwstelsel-syndroom is een zeldzaam syndroom met meervoudige ontwikkelingsanomalieën dat gekarakteriseerd wordt door de triade van ectodermale dysplasie (voornamelijk hypohidrotisch met droge huid en verminderd zweten, en schaars blond haar op de hoofdhuid, de wenkbrauwen en de wimpers), ernstige intellectuele achterstand en variabele anomalieën van het centrale zenuwstelsel (cerebellaire hypoplasie, dilatatie van ventrikels, agenesie van het corpus callosum, Dandy-Walker malformatie). Typische craniofaciale dysmorfie met macrocefalie, boller voorhoofd, hypoplasie van het middengezicht en hoog gebogen of gespleten verhemelte, alsook cryptorchisme, voedingsproblemen en hypotonie, zijn geassocieerd. Sinds 1998 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Síndrome de displasia ectodérmica-perturbação do desenvolvimento intelectual-malformação do SNC"},"pl":{"name":"Dysplazja ektodermalna - upośledzenie umysłowe- wada centralnego układu nerwowego"},"cs":{"name":"Syndrom zahrnující ektodermální dysplázii, mentální retardaci a malformaci centrálního nervového systému"},"uk":{"name":"Синдром ектодермальної дисплазії - інтелектуальної недостатності - мальформації центральної нервової системи","definition":"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998."},"zh":{"name":"外胚层发育不良-智力障碍-中枢神经系统畸形综合征"},"tr":{"name":"Ektodermal displazi-zihinsel yetersizlik-merkezi sinir sistemi malformasyon sendromu"}},"xrefs":[{"source":"OMIM","code":"225040","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":"448290524"},{"source":"MONDO","code":"0009149","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518334","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null}]}}