{"orpha":2269,"name":"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Jagell-Holmgren-Hofer syndrome"],"definition":"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2269/","orphanet_url":"https://www.orpha.net/en/disease/detail/2269","names":{"fr":{"name":"Syndrome d'ichtyose-alopécie-éclabion-ectropion-déficience intellectuelle","synonyms":["Syndrome de Jagel-Holmgren-Hofer"],"definition":"Le syndrome d'ichtyose-alopécie-éclabion-ectropion-déficience intellectuelle est un syndrome de dysplasie ectodermique caractérisé par une ichtyose lamellaire généralisée et sévère dès la naissance, une alopécie, un éclabion, un ectropion et un déficit intellectuel. Malgré une similitude avec le syndrome de Sjögren-Larsson, ce syndrome ne présente pas de changement neurologique ou maculaire. Il n'y a pas eu de description ultérieure dans la littérature depuis 1987."},"de":{"name":"Ichthyose-Alopezie-Eklabium-Ektropion-Intelligenzminderung-Syndrom","synonyms":["Jagell-Holmgren-Hofer-Syndrom"],"definition":"Das Jagel-Holmgren-Hofer-Syndrom ist eine ektodermale Dysplasie charakterisiert durch eine schwere, generalisierte Lamelläre Ichthyose bei Geburt mit Alopezie, Eklabium, Ektropion und Intelligenzminderung. Obwohl es dem Sjögren-Larsson-Syndrom ähnelt, bestehen bei diesem Syndrom keine neurologischen oder makulären Veränderungen. Seit 1987 gab es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ictiosis-alopecia-eclabión-ectropión-discapacidad intelectual","synonyms":["Síndrome de Jagell-Holmgren-Hofer"],"definition":"El síndrome de ictiosis-alopecia-eclabion-ectropion-discapacidad intelectual es un síndrome de displasia ectodérmica caracterizado por ictiosis lamelar generalizada grave al nacimiento con alopecia, eclabion, ectropion y discapacidad intelectual. Aunque es similar al síndrome de Sjögren-Larsson, este síndrome no presenta cambios oculares (maculares) o neurológicos. No se han descrito nuevos casos en la literatura desde 1987."},"it":{"name":"Sindrome ittiosi-alopecia-eclabion-ectropion-disabilità intellettiva","synonyms":["Sindrome di Jagel-Holmgren-Hofer"],"definition":"L'ittiosi-alopecia-eclabion-ectropion-disabilità intellettiva è una displasia ectodermica caratterizzata da ittiosi lamellare generalizzata grave che esordisce alla nascita con alopecia, eclabion, ectropion e disabilità intellettiva. Malgrado le somiglianze con la sindrome di Sjögren-Larsson, i pazienti affetti da questa malattia non presentano anomalie neurologiche o maculari. Non sono stati descritti nuovi casi dopo il 1987."},"nl":{"name":"Ichthyosis - alopecie - eclabium - ectropion - intellectuele achterstand-syndroom","synonyms":["Syndroom van Jagell-Holmgren-Hofer"],"definition":"Ichthyosis - alopecie - eclabium - ectropion - intellectuele achterstand-syndroom is een ectodermale dysplasie-syndroom dat wordt gekarakteriseerd door ernstige gegeneraliseerde lamellaire ichthyosis bij de geboorte met alopecie, eclabium, ectropion en intellectuele beperking. Hoewel het gelijkaardig is aan syndroom van Sjögren-Larsson, zijn bij dit syndroom geen neurologische of maculaire veranderingen aanwezig. Sinds 1987 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ictiose-alopecia-eclábio-ectropion-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Jagell-Holmgren-Hofer"]},"pl":{"name":"Rybia łuska - łysienie - wywinięcie warg i powiek - niepełnosprawność intelektualna","synonyms":["Zespół Jagella, Holmgrena i Hofera"]},"cs":{"name":"Syndrom zahrnující ichtyózu, alopecii, eklabium, ektropium a mentální retardaci","synonyms":["Jagellův-Holmgrenův-Hoferův syndrom","Jagell-Holmgren-Hoferův syndrom"]},"uk":{"name":"Синдром іхтіозу-алопеції-еклабіону-ектропіону-інтелектуальної недостатності","synonyms":["Синдром Ягеля-Хольмгрена-Хофера"],"definition":"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987."},"zh":{"name":"鱼鳞病-脱发-唇外翻-眼睑外翻-智力障碍综合征","synonyms":["Jagell-Holmgren-Hofer综合征"]},"tr":{"name":"İktiyoz-alopesi-eklabiyon-ektropiyon-zihinsel yetersizlik sendromu","synonyms":["Jagell-Holmgren-Hofer sendromu"]}},"xrefs":[{"source":"OMIM","code":"242510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1611573875"},{"source":"MONDO","code":"0009444","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537364","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855788","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"292","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":281238,"name":"Autosomal ichthyosis syndrome with prominent neurologic signs","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98571,"name":"Secondary ectropion","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3829441[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3829441[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-05","source":"3829441[PMID]_28976107[PMID]_27377997[PMID]","terms":[{"hpo":"HP:0002221","label":"Absent axillary hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002555","label":"Absent pubic hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005597","label":"Congenital alopecia totalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007503","label":"Generalized ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012472","label":"Eclabion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005595","label":"Generalized hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0030182","label":"Tetraplegia/tetraparesis","frequency":"Excluded (0%)","criteria":null}]}}