{"orpha":480907,"name":"X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480907/","orphanet_url":"https://www.orpha.net/en/disease/detail/480907","names":{"fr":{"name":"Syndrome de déficience intellectuelle-retard de développement global-dysmorphie faciale-appendice caudal","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare(s) caractérisé(es) par un retard de développement global, une déficience intellectuelle, un retard de croissance, une déficience auditive, une dysmorphie faciale caractéristique (arcades sourcilières proéminentes, fentes palpébrales inclinées vers le bas, yeux profondément situés dans les orbites, visage allongé, affaissement des joues, narines antéversées, menton pointu), une hypotonie généralisée, une hypermobilité articulaire, un sillon interfessier avec appendice caudal et fossette sacrée et des signes neurologiques inconstants. Diverses anomalies ophtalmologiques, cutanées, musculosquelettiques, gastro-intestinales et cardiovasculaires ont également été décrites."},"de":{"name":"X-chromosomale Intelligenzminderung-globale Entwicklungsverzögerung-Gesichtsdysmorphie-sakraler kaudaler Überrest","definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, gekennzeichnet durch globale Entwicklungsverzögerung, Intelligenzminderung, Wachstumsretardierung, Schwerhörigkeit und eine charakteristische Gesichtsdysmorphie (einschließlich prominenter supraorbitaler Grate, schräg nach unten verlaufende Lidspalten, tiefliegende Augen, langes Gesicht, hängende Wangen, antevertierte Nasenlöcher und spitzes Kinn). Weitere Merkmale sind eine generalisierte Hypotonie, eine Hypermobilität der Gelenke, eine Gesäßfalte mit sakralem Schwanzrest und sakralem Grübchen sowie verschiedene neurologische Merkmale. Verschiedene ophthalmologische, kutane, muskuloskelettale, gastrointestinale und kardiovaskuläre Anomalien wurden ebenfalls beschrieben."},"es":{"name":"Síndrome de discapacidad intelectual-retraso global del desarrollo-dismorfia facial-remanente caudal del sacro ligado al cromosoma X","definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples poco frecuente caracterizado por retraso global del desarrollo, discapacidad intelectual, retraso del crecimiento, hipoacusia, dismorfia facial característica (incluyendo bordes supraorbitales prominentes, fisuras palpebrales descendentes, ojos hundidos, cara alargada, mejillas caídas, fosas nasales antevertidas y mentón puntiagudo), hipotonía generalizada, hipermovilidad articular, pliegue glúteo con remanente sacro caudal y hoyuelo sacro, y diversas anomalías neurológicas. También se han descrito diversas anomalías oftálmicas, cutáneas, musculoesqueléticas, gastrointestinales y cardiovasculares."},"it":{"name":"Sindrome disabilità intellettiva- ritardo dello sviluppo globale-dismorfismi facciali-appendice caudale sacrale legata all'X","definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, ritardo della crescita, ipoacusia, dismorfismi facciali caratteristici (arcate sopraorbitali prominenti, rime palpebrali oblique verso il basso, occhi infossati, viso allungato, guance cadenti, narici anteverse e mento appuntito), ipotonia generalizzata, ipermobilità delle articolazioni, solco gluteo con residuo sacrale caudale e fossetta sacrale, e sintomi neurologici variabili. I pazienti possono presentare anche anomalie oculari, cutanee, muscoloscheletriche, gastrointestinali e cardiovascolari."},"nl":{"name":"X-gebonden intellectuele achterstand - algemene ontwikkelingsachterstand - faciale dysmorfie - sacraal caudaal restant-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door algehele ontwikkelingsachterstand, intellectuele achterstand, groeiretardatie, gehoorverlies, kenmerkende faciale dysmorfie (met onder meer prominente supraorbitale randen, schuin naar beneden hellende ooglidspleten, diepliggende ogen, lang aangezicht, hamsterwangen, anteversie van neusgaten, spitse kin), gegeneraliseerde hypotonie, gewrichtshypermobiliteit, sulcus glutealis met sacraal caudaal restant en sacraal kuiltje, en variabele neurologische kenmerken. Verschillende oftalmische, cutane, musculoskeletale, gastro-intestinale, en cardiovasculaire anomalieen werden ook reeds beschreven."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-atraso do desenvolvimento global-dismorfia facial-remanescente caudal sagrado ligada ao X","definition":"Anomalia congénita múltipla/síndrome dismórfica caracterizada por perturbação global do desenvolvimento intelectual, atraso do crescimento, perturbação auditiva, dismorfia facial característica (incluindo regiões supraorbitárias proeminentes, fissuras palpebrais inclinadas para baixo, olhos profundos, face longa, bochechas flácidas, narinas antevertidas, e queixo pontiagudo), hipotonia generalizada, hipermobilidade articular, sulco glúteo com remanescente caudal sacral e depressão sacral e características neurológicas variáveis. Foram descritas anomalias oftalmológicas, cutâneas, musculoesqueléticas, gastrointestinais e cardiovasculares."},"pl":{"name":"Zespół niepełnosprawności intelektualnej sprzężonej z chromosomem X, opóźnienia w rozwoju, dysmorfii twarzy i szczątkowej kości krzyżowo-ogonowej?"},"cs":{"name":"Syndrom X-vázané intelektové nedostatečnosti, celkového vývojového opoždění, faciálního dysmorfismu a kaudální regrese"},"uk":{"name":"Х-зчеплений синдром розумової відсталості-глобальної затримки розвитку-дизморфізму обличчя-сакральнокаудального залишку","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described."},"zh":{"name":"X连锁-智力障碍-全面发育迟缓-面部畸形-尾椎存在综合征"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-yaygın gelişme gecikmesi-fasiyal dismorfizm-sakral kaudal kalıntı sendromu"}},"xrefs":[{"source":"OMIM","code":"300966","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018823","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10500","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18823","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225418","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":[{"symbol":"TAF1","name":"TATA-box binding protein associated factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26637982[PMID]","hgnc":"11535","ensembl":"ENSG00000147133","omim":"313650","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"26637982[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26637982[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-12","source":"30805980[PMID]_26637982[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008468","label":"Abnormal sacral segmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008472","label":"Prominent protruding coccyx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006863","label":"Severe expressive language delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}