{"orpha":1895,"name":"Edinburgh malformation syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Typus Edinburgensis"],"definition":"Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1895/","orphanet_url":"https://www.orpha.net/en/disease/detail/1895","names":{"fr":{"name":"Syndrome malformatif d'Édimbourg","synonyms":["Typus Edinburgensis"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique létal rare d'origine génétique caractérisé par une apparence faciale anormale, une hydrocéphalie, un retard de développement moteur et cognitif, un retard de croissance (difficultés à s'alimenter, vomissements, infections thoraciques) et le décès dans les quelques mois qui suivent la naissance. La bouche en forme du museau d'une carpe, une pilosité au niveau du front, une hyperbilirubinémie néonatale et un âge osseux avancé peuvent également être associés. Aucun cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Edinburgh-Fehlbildungssyndrom","synonyms":["Edinburgh-Syndrom"]},"es":{"name":"Síndrome de malformación de Edinburgh","synonyms":["Tipo edimburgués"],"definition":"Es un síndrome dismórfico con anomalías congénitas múltiples, letal, genético y poco frecuente, caracterizado por una apariencia facial sistemáticamente anómala, hidrocefalia verdadera o aparente, retraso en el desarrollo psicomotor, fallo de medro (dificultades de alimentación, vómitos, infecciones respiratorias) y muerte unos meses después del nacimiento. También pueden estar asociados boca en carpa, vello frontal, hiperbilirrubinemia neonatal y edad ósea avanzada. No se han descrito más casos en la literatura desde 1991."},"it":{"name":"Sindrome malformativa di Edimburgo","synonyms":["Tipo Edinburgensis"],"definition":"La sindrome malformativa di Edimburgo è una malattia genetica rara e letale da anomalie/dismorfismi congeniti multipli, caratterizzata da marcate anomalie del viso, idrocefalo vero o apparente, ritardo dello sviluppo motorio e cognitivo, ritardo della crescita (difficoltà di alimentazione, vomito, infezioni toraciche) e decesso nei primi mesi di vita. Possono associarsi la bocca ''da carpa'', l'ipertricosi della fronte, l'iperbilirubinemia neonatale e l'avanzamento dell'età ossea. Non sono stati descritti nuovi casi dopo il 1991."},"nl":{"name":"Edinburgh-malformatiesyndroom","synonyms":["Typus Edinburgensis"],"definition":"Edinburgh malformatiesyndroom is een zeldzaam, genetisch, letaal meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door een constant abnormale gelaatsuitdrukking, echte of schijnbare hydrocefalie, motorische en cognitieve ontwikkelingsachterstand, groeiachterstand (voedingsproblemen, braken, infecties van de borstkas) en overlijden binnen enkele maanden na de geboorte. Karpermond, behaard voorhoofd, neonatale hyperbilirubinemie en gevorderde botleeftijd kunnen ook geassocieerd zijn. Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de malformação de Edimburgo"},"pl":{"name":"Zespół malformacji Edinburgh","synonyms":["Typus Edinburgensis"],"definition":"*Zespół malformacji Edinburgh to rzadki, genetycznie uwarunkowany, letalny zespół licznych wad wrodzonych/zespół dysmorficzny, który charakteryzuje się nieprawidłowym wyglądem twarzy, wodogłowiem, opóźnieniem rozwoju ruchowego i poznawczego, brakiem prawidłowego rozwoju (trudności w karmieniu, wymioty, infekcje układu oddechowego) i zgonem w ciągu kilku miesięcy po urodzeniu. Mogą również towarzyszyć usta przypominające pyszczek karpia, owłosienie czoła, hiperbilirubinemia noworodków i zaawansowany wiek kostny. Od 1991 r. nie ma nowych opisów w literaturze."},"cs":{"name":"Edinburghský syndrom malformace","synonyms":["Typus Edinburgensis"]},"uk":{"name":"Единбурзький синдром мальформації","synonyms":["Typus Edinburgensis"],"definition":"Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991."},"zh":{"name":"Edinburgh畸形综合征","synonyms":["Edinburgh遗传型"]},"tr":{"name":"Edinburgh malformasyon sendromu","synonyms":["Typus Edinburgensis"]}},"xrefs":[{"source":"OMIM","code":"129850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q95.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007519","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563051","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795933","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2074","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2057251[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2057251[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001088","label":"Brushfield spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Occasional (29-5%)","criteria":null}]}}