{"orpha":2985,"name":"Pseudoprogeria syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Absent eyebrows and eyelashes-intellectual disability syndrome","Hal-Berg-Rudolph syndrome"],"definition":"A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2985/","orphanet_url":"https://www.orpha.net/en/disease/detail/2985","names":{"fr":{"name":"Pseudoprogéria","synonyms":["Syndrome d'absence de sourcils et de cils-déficience intellectuelle","Syndrome de Hal-Berg-Rudolph"],"definition":"Déficience intellectuelle syndromique rare qui se caractérise par un retard psychomoteur, une quadriplégie spastique progressive sévère, une microcéphalie et un phénotype de type Hallerman-Streiff se manifestant par l'absence de sourcils et de cils, un glaucome et un petit nez en forme de bec. Des anomalies structurelles du système nerveux central (kyste du rachis cervical, anomalies de fermeture du tube neural) ont également été observées. Aucun cas n'a été décrit dans la littérature depuis 1974."},"de":{"name":"Pseudo-Progerie-Syndrom","synonyms":["Fehlende Augenbrauen und Lider-Intelligenzminderung-Syndrom","Hal-Berg-Rudolph-Syndrom"],"definition":"Eine syndromale Intelligenzminderung, die gekennzeichnet ist durch psychomotorische Verzögerung, schwere progressive spastische Tetraplegie, Mikrozephalie und einen Hallerman-Streiff-ähnlichen Phänotyp mit fehlenden Augenbrauen und Wimpern, Glaukom und kleiner Schnabelnase. Strukturelle Anomalien des zentralen Nervensystems (zervikale Spinalzyste, occipitales Cranium bifidum occulatum) waren weitere Befunde. Seit 1974 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de pseudoprogeria","synonyms":["Síndrome de Hal-Berg-Rudolph","Síndrome de ausencia de cejas y pestañas-discapacidad intelectual"],"definition":"Es una discapacidad intelectual sindrómica de origen genético caracterizada por retraso psicomotor, tetraplejia espástica progresiva grave, microcefalia y fenotipo similar al síndrome de Hallermann-Streiff que incluye ausencia de cejas y pestañas, glaucoma y nariz pequeña y picuda. Otros hallazgos adicionales fueron las anomalías estructurales del sistema nervioso central (quiste espinal cervical, cráneo bífido oculto occipital). No ha habido más casos descritos en la literatura desde 1974."},"it":{"name":"Pseudoprogeria","synonyms":["Sindrome di Hal-Berg-Rudolph","Sindrome assenza delle sopracciglia e delle ciglia- disabilità intellettiva"],"definition":"Si tratta di un deficit intellettivo sindromico raro, caratterizzato da ritardo psicomotorio, quadriplegia spastica grave progressiva, microcefalia e fenotipo simil-Hallerman-Streiff (assenza delle sopracciglia e delle ciglia, glaucoma e naso piccolo a becco). I pazienti possono presentare anche anomalie della struttura del sistema nervoso centrale (cisti spinale cervicale, cranio bifido occulto occipitale). Non sono stati descritti nuovi casi dopo il 1974."},"nl":{"name":"Pseudoprogeria-syndroom","synonyms":["Afwezige wenkbrauwen en wimpers - intellectuele achterstand-syndroom","Syndroom van Hal-Berg-Rudolph"],"definition":"Een zeldzame syndromale intellectuele deficiëntie, gekarakteriseerd door psychomotorische achterstand, ernstige progressieve spastische tetraplegie, microcefalie, en een fenotype gelijkend op dat van syndroom van Hallerman-Streiff, met onder meer afwezigheid van wenkbrauwen en wimpers, glaucoom, en kleine, snavelvormige neus. Bijkomende bevindingen zijn structurele afwijkingen van centraal zenuwstelsel (cervicale spinale cyste, occipitaal gespleten schedel). Sinds 1974 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de pseudo-progeria","synonyms":["Síndrome Hal-Berg-Rudolph","Síndrome de ausência de sobrancelhas e pestanas-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół pseudoprogerii","synonyms":["Brak brwi i rzęs - niepełnosprawność intelektualna","Zespół Hala, Berga i Rudolpha"]},"cs":{"name":"Syndrom pseudoprogerie","synonyms":["Syndrom zahrnující absenci obočí a očních řas a mentální retardaci","Halův-Bergův-Rudolphův syndrom","Hal-Berg-Rudolphův syndrom"]},"uk":{"name":"Синдром псевдопрогерії","synonyms":["Синдром відсутності брів та вій - інтелектуальної недостатності","Синдром Хал-Берга-Рудольфа"],"definition":"A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974."},"zh":{"name":"假性早衰综合征","synonyms":["眉毛和睫毛缺如-智力障碍综合征"]},"tr":{"name":"Psödoprogeria sendromu","synonyms":["Hal-Berg-Rudolph sendromu","Kaş ve kirpik yokluğu-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"200130","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008694","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563111","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796125","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"415","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":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4418946[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4418946[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-04","source":"4418946[PMID]","terms":[{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000320","label":"Bird-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004423","label":"Cranium bifidum occultum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011832","label":"Narrow nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002478","label":"Progressive spastic quadriplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009745","label":"Spinalarachnoid cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null}]}}