{"orpha":94066,"name":"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in the chromosome regions, one localised to chromosome 1 and the other to chromosome 14.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94066/","orphanet_url":"https://www.orpha.net/en/disease/detail/94066","names":{"fr":{"name":"Syndrome de déficience intellectuelle sévère-épilepsie-anomalies anales-hypoplasie des phalanges","definition":"Le syndrome de déficience intellectuelle sévère-épilepsie-anomalies anales-hypoplasie des phalanges se caractérise par un déficit intellectuel sévère associé à une épilepsie, à une hypoplasie des extrémités des phalanges et une antéposition de l'anus. Il a été décrit chez deux soeurs nées de parents consanguins. La transmission de ce syndrome est autosomique récessive. Des anomalies de deux régions chromosomiques, l'une située sur le chromosome 1 et l'autre située sur le chromosome 14 seraient à l'origine de la maladie."},"de":{"name":"Schwere Intelligenzminderung-Epilepsie-Analanomalien-Hypoplastische distale Phalangen","definition":"Dieses Syndrom ist gekennzeichnet durch schwere geistige Behinderung, Epilepsie, Hypoplasie der Endphalangen und einen nach vorn verlagerten Anus. Es wurde bei 2 Schwestern mit konsanguinen Eltern beschrieben. Wahrscheinlich wird das Syndrom autosomal-rezessiv, mit Anomalien auf Chromosom 1 und 14, vererbt."},"es":{"name":"Discapacidad intelectual grave-epilepsia-anomalías del ano-hipoplasia de las falanges distales","definition":"Es un trastorno caracterizado por un déficit intelectual grave, epilepsia, hipoplasia de las falanges terminales y desplazamiento anterior del ano. Se ha descrito en dos hermanas nacidas de padres consanguíneos. El síndrome se transmite como un rasgo autosómico recesivo y parece estar causado por anomalías en dos regiones cromosómicas, una localizada en el cromosoma 1 y la otra en el cromosoma 14."},"it":{"name":"Disabilità cognitiva grave-epilessia-anomalie anali-ipoplasia delle falangi distali"},"nl":{"name":"Ernstige intellectuele achterstand - epilepsie - anale anomalieën - distale falangeale hypoplasie-syndroom","definition":"Een syndroom, gekenmerkt door ernstige intellectuele achterstand, epilepsie, hypoplasie van terminale falangen, en anterieur verplaatste anus. Ernstige intellectuele achterstand - epilepsie - anale anomalieën - hypoplasie van distale falangen-syndroom werd beschreven bij twee zussen van bloedverwante ouders. Het syndroom wordt overgedragen als een autosomaal recessief kenmerk, en lijkt veroorzaakt te worden door anomalieën in twee chromosoomregio's, één gesitueerd op chromosoom 1 en de andere op chromosoom 14."},"pt":{"name":"Perturbação do desenvolvimento intelectual grave-epilepsia-anomalias anais-hipoplasia das falanges distais"},"pl":{"name":"Głęboka niepełnosprawność intelektualna - padaczka - anomalie odbytu - hipoplazja paliczków dystalnych"},"cs":{"name":"Syndrom zahrnující těžkou mentální retardaci, epilepsii, anální anomálie a hypoplázie distálních falangů"},"uk":{"name":"Тяжка розумова відсталість - епілепсія - аномалії анального отвору - гіпоплазія дистальних фаланг пальців","definition":"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14."},"zh":{"name":"重度智力障碍-癫痫-肛门畸形-远端指骨发育不全综合征","definition":"严重智力障碍-癫痫-肛门畸形-远端指骨发育不全的特点是严重的智力缺陷、癫痫、末节指骨发育不全、肛门前移。该病曾报道发生于近亲父母所生的两个姐妹身上。该综合征呈常染色体隐性遗传，且似乎是由位于1号染色体或14号染色体的染色体异常引起。"},"tr":{"name":"Ağır zihinsel yetersizlik-epilepsi-anal anomaliler-distal falangeal hipoplazi"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019786","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510007","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17351347[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17351347[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009835","label":"Aplasia/Hypoplasia of the distal phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010185","label":"Aplasia/Hypoplasia of the distal phalanges of the toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}