{"orpha":3078,"name":"Severe X-linked intellectual disability, Gustavson type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gustavson syndrome"],"definition":"A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3078/","orphanet_url":"https://www.orpha.net/en/disease/detail/3078","names":{"fr":{"name":"Déficience intellectuelle sévère liée à l'X type Gustavson","synonyms":["Syndrome de Gustavson"],"definition":"Déficience intellectuelle syndromique rare liée à l'X d'origine génétique, caractérisée par une déficience intellectuelle sévère, une microcéphalie, un retard de croissance post-natal, une déficience visuelle sévère ou une cécité (due à une atrophie optique), un déficit auditif sévère, une spasticité, des crises d'épilepsie, une raideur des grosses articulations et le décès précoce du patient (pendant la petite enfance ou tôt dans l'enfance). Une dysmorphie faciale (grandes oreilles dysplasiques et nez large et court) est également observée. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Schwere X-chromosomale Intelligenzminderung Typ Gustavson","synonyms":["Gustavson-Syndrom"],"definition":"Eine seltene, X-chromosomale syndromale Störung der intellektuellen Entwicklung, die durch schwere geistige Behinderung, Mikrozephalie, postnatale Wachstumsretardierung, schwere Sehbehinderung oder Blindheit (aufgrund von Optikusatrophie), schweren Hörfehler, Spastizität, epileptische Anfälle, eingeschränkte Bewegungen der großen Gelenke und frühen Tod (im Säuglingsalter oder in der frühen Kindheit) gekennzeichnet ist. Gesichtsdysmorphien (große dysplastische Ohren und kurze breite Nase) werden zusätzlich beobachtet. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Discapacidad intelectual grave ligada al cromosoma X tipo Gustavson","synonyms":["Síndrome de Gustavson"],"definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X, de origen genético y poco frecuente, caracterizada por discapacidad intelectual grave, microcefalia, retraso del crecimiento post-natal, disfunción visual grave o ceguera (por atrofia óptica), grave deterioro auditivo, espasticidad, crisis epilépticas, movilidad restringida en las grandes articulaciones y muerte prematura (en la lactancia o en la infancia temprana). También se observan rasgos faciales dismórficos (orejas grandes displásicas y nariz ancha y corta). No ha habido más casos descritos en la literatura desde 1993."},"it":{"name":"Disabilità intellettiva grave legata all'X, tipo Gustavson","synonyms":["Sindrome Gustavson"],"definition":"Si tratta di una malattia genetica rara da disabilità intellettiva legata all'X, caratterizzata da disabilità intellettiva grave, microcefalia, ritardo della crescita postnatale, grave compromissione della vista o cecità (secondaria all'atrofia ottica), gravi difetti dell'udito, spasticità, crisi epilettiche, limitazione dei movimenti delle grandi articolazioni e morte precoce (in epoca neonatale o nella prima infanzia). I pazienti presentano anche dismorfismi facciali (orecchie grandi e displastiche e naso corto e largo). Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Ernstige X-gebonden intellectuele achterstand, Gustavson-type","synonyms":["Syndroom van Gustavson"],"definition":"Een zeldzame, genetische, X-gebonden, syndromale intellectuele achterstand gekarakteriseerd door ernstige intellectuele achterstand, microcefalie, postnatale groeiretardatie, ernstige visuele stoornis of blindheid (als gevolg van opticusatrofie), ernstige gehoorstoornis, spasticiteit, epileptische insulten, beperkte bewegingen van grote gewrichten, en vroegtijdig overlijden (in de zuigelingentijd of vroege kindertijd). Bijkomend worden dysmorfe gelaatskenmerken (grote dysplastische oren en korte, brede neus) waargenomen. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Perturbação do desenvolvimento intelectual grave ligado ao X, tipo Gustavson","synonyms":["Síndrome Gustavson"]},"pl":{"name":"Głęboka niepełnosprawność intelektualna sprzężona z chromosomem X typu Gustavsona","synonyms":["Gustavson syndrome"]},"cs":{"name":"Těžká X-vázaná mentální retardace, Gustavsonův typ","synonyms":["Gustavson syndrome"]},"uk":{"name":"Тяжка Х-зчеплена розумова відсталість, тип Густавсона","definition":"A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993."},"zh":{"name":"X连锁严重智力障碍，Gustavson亚型"},"tr":{"name":"Ağır X'e bağlı zihinsel yetersizlik, Gustavson tipi"}},"xrefs":[{"source":"OMIM","code":"309555","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F72.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010661","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302744","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5611","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]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"RBMX","name":"RNA binding motif protein X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37277488[PMID]","hgnc":"9910","ensembl":"ENSG00000147274","omim":"300199","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"8456840[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8456840[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-09","source":"8456840[PMID]","terms":[{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012715","label":"Profound hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005949","label":"Apneic episodes in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005486","label":"Small fontanelle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001848","label":"Calcaneovalgus deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005781","label":"Contractures of the large joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}