{"orpha":611207,"name":"Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SHILCA syndrome"],"definition":"A rare primary bone dysplasia characterized by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinization, white matter hyperintensity, hypomyelinating leukoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-611207/","orphanet_url":"https://www.orpha.net/en/disease/detail/611207","names":{"fr":{"name":"Syndrome de dysplasie spondyloépiphysaire-surdité neurosensorielle-déficience intellectuelle-amaurose congénitale de Leber","synonyms":["Syndrome SHILCA"],"definition":"Dysplasie osseuse primaire rare caractérisée par une dysplasie spondylo-épiphysaire sévère, une perte auditive neurosensorielle, une déficience intellectuelle et une amaurose congénitale de Leber. Des anomalies cérébrales (notamment un retard de myélinisation, une hypersignal de la substance blanche, une leucoencéphalopathie hypomyélinisante, une hypoplasie/atrophie cérébrale et cérébelleuse), une hypotonie, une ataxie, une dysmorphie faciale (notamment un pont nasal déprimé et une grande bouche), ainsi qu'une dentition irrégulière ont également été rapportés."},"de":{"name":"Spondyloepiphysäre Dysplasie-sensorineuraler Hörverlust-Intelligenzminderung-Lebersche kongenitale Amaurose-Syndrom","synonyms":["SHILCA-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie, die durch eine schwere spondyloepiphysäre Dysplasie, sensorineurale Schwerhörigkeit, Intelligenzminderung und kongenitale Leber-Amaurose gekennzeichnet ist. Außerdem wurden Hirnanomalien (einschließlich verzögerter Myelinisierung, Hyperintensität der weißen Substanz, hypomyelinisierende Leukoenzephalopathie, zerebrale und zerebelläre Hypoplasie/Atrophie), Hypotonie, Ataxie, Gesichtsdysmorphien (einschließlich eines abgesenkten Nasenrückens und eines großen Mundes) sowie ein unregelmäßiges Gebiss beobachtet."},"es":{"name":"Síndrome de displasia espondiloepifisaria-hipoacusia neurosensorial-discapacidad intelectual-amaurosis congénita de Leber","synonyms":["Síndrome SHILCA"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por displasia espondiloepifisaria grave, hipoacusia neurosensorial, discapacidad intelectual y amaurosis congénita de Leber. También se han descrito anomalías cerebrales (incluyendo retraso de la mielinización, hiperintensidad de la sustancia blanca, leucoencefalopatía hipomielinizante, hipoplasia/atrofia cerebral y cerebelosa), hipotonía, ataxia, rasgos faciales dismórficos (incluyendo puente nasal profundo y boca grande) y dentición irregular."},"it":{"name":"Sindrome da displasia spondiloepifisaria-sordità neurosensoriale-disabilità intellettiva-amaurosi congenita di Leber","synonyms":["Sindrome SHILCA"]},"nl":{"name":"Spondylo-epifysaire dysplasie - sensorineuraal gehoorverlies - intellectuele achterstand - congenitale amaurose van Leber-syndroom","synonyms":["SHILCA-syndroom"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door ernstige spondylo-epifysaire dysplasie, sensorineuraal gehoorverlies, intellectuele achterstand, en congenitale amaurose van Leber. Hersenanomalieën (waaronder vertraagde myelinisatie, hyperintensiteit van witte stof, hypomyeliniserende leuko-encefalopathie, cerebrale en cerebellaire hypoplasie/atrofie), hypotonie, ataxie, dysmorfe gelaatskenmerken (waaronder ingezakte neusbrug en grote mond) en een onregelmatig gebit werden ook gerapporteerd."},"pt":{"name":"Síndrome de displasia espondiloepifisária-perda auditiva neurossensorial-perturbação do desenvolvimento intelectual-amaurose congénita Leber","synonyms":["Síndrome SHILCA"]},"pl":{"name":"Zespół dysplazji kręgowo-nasadowej - głuchoty zmysłowo-nerwowej - niepełnosprawności intelektualnej - wrodzonej ślepoty Lebera","synonyms":["SHILCA syndrome"],"definition":"Rzadka pierwotna dysplazja kostna, charakteryzująca się ciężką dysplazją kręgowo-nasadową, odbiorczym niedosłuchem, niepełnosprawnością intelektualną i wrodzoną ślepotą Lebera. Zgłaszano również anomalie mózgu (w tym opóźnioną mielinizację, hiperintensywność istoty białej, leukoencefalopatię hipomielinizacyjną, hipoplazję/atrofię mózgu i móżdżku), hipotonię, ataksję, dysmorficzne rysy twarzy (w tym obniżony grzbiet nosa i duże usta) oraz wady zgryzu."},"cs":{"name":"Syndrom zahrnující spondyloepifyzární dysplázii, senzorineurální nedoslýchavost, mentální retardaci a Leberovu vrozenou amaurózu","synonyms":["SHILCA syndrome"]},"uk":{"name":"Синдром спондилоепіфізарної дисплазії-сенсоневральної приглухуватості-інтелектуальної недостатності-вродженого амаврозу Лебера","synonyms":["Синдром SHILCA"]}},"xrefs":[{"source":"OMIM","code":"619260","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0031007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5543257","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}