{"orpha":397709,"name":"Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SNX14-related autosomal recessive spinocerebellar ataxia","Autosomal recessive spinocerebellar ataxia type 20","Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome","SCAR20"],"definition":"A rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397709/","orphanet_url":"https://www.orpha.net/en/disease/detail/397709","names":{"fr":{"name":"Syndrome de déficience intellectuelle-traits grossiers du visage-macrocéphalie-hypotrophie cérébelleuse","synonyms":["Ataxie spinocérébelleuse autosomique récessive associée à SNX14","Ataxie spinocérébelleuse autosomique récessive type 20","SCAR20","Syndrome de déficience intellectuelle-traits grossiers du visage-macrocéphalie-hypoplasie cérébelleuse"],"definition":"Malformation rare et génétique du système nerveux central caractérisée par une ataxie cérébelleuse sévère progressive à début précoce associée à une déficience intellectuelle progressive modérée à sévère, un retard de développement global, une dysmorphie faciale qui s'accentue progressivement et une macrocéphalie relative, en l'absence de convulsions. Une surdité neurosensorielle peut être associée. L'imagerie cérébrale met en évidence une atrophie/hypoplasie cérébelleuse."},"de":{"name":"Intelligenzminderung-grobe Gesichtsszüge-Makrozephalie-zerebelläre Hypoplasie-Syndrom","synonyms":["SNX14-assoziierte autosomal-rezessive spinozerebelläre Ataxie","Ataxie, spinozerebelläre, autosomal-rezessive, Typ 20","SCAR20"]},"es":{"name":"Síndrome de discapacidad intelectual-cara tosca-macrocefalia-hipotrofia cerebelosa","synonyms":["Ataxia espinocerebelosa autosómica recesiva asociada al gen SNX14","Ataxia espinocerebelosa autosómica recesiva tipo 20","SCAR20","Síndrome de discapacidad intelectual-cara tosca-macrocefalia-hipoplasia cerebelosa"],"definition":"El síndrome de discapacidad intelectual - cara tosca - macrocefalia - hipotrofia cerebelosa es un síndrome malformativo del sistema nervioso central, genético y poco frecuente, caracterizado por ataxia cerebelosa grave, de inicio temprano y progresiva, asociada a discapacidad intelectual progresiva de moderada a grave, retraso global del desarrollo, rasgos faciales toscos, macrocefalia relativa y ausencia de convulsiones. Puede estar asociada la pérdida auditiva neurosensorial. Las pruebas de neuroimagen revelan atrofia / hipoplasia cerebelosa."},"it":{"name":"Sindrome disabilità intellettiva-aspetto grossolano del viso-macrocefalia-ipotrofia cerebellare","synonyms":["Atassia spinocerebellare autosomica recessiva correlata a SNX14","SCAR20","Sindrome deficit cognitivo-faccia grossolana-macrocefalia-ipoplasia cerebellare","Atassia spinocerebellare autosomica recessiva tipo 20"],"definition":"La sindrome che associa la disabilità intellettiva, l'aspetto grossolano del viso, la macrocefalia e l'ipotrofia cerebellare è una malformazione genetica rara del sistema nervoso centrale, caratterizzata da atassia cerebellare progressiva grave ad esordio precoce, associata a disabilità intellettiva progressiva da moderata a grave, ritardo dello sviluppo globale, lineamenti grossolani ingravescenti e macrocefalia relativa, in assenza di crisi epilettiche. Può associarsi alla sordità neurosensoriale. Le neuroimmagini evidenziano atrofia/ipoplasia cerebellare."},"nl":{"name":"Intellectuele achterstand - grof aangezicht - macrocefalie - cerebellaire hypotrofie-syndroom","synonyms":["SNX14-gerelateerde autosomaal recessieve spinocerebellaire ataxie","Autosomaal recessieve spinocerebellaire ataxie type 20","Intellectuele achterstand - grof gelaat - macrocefalie - cerebellaire hypoplasie-syndroom","SCAR20"],"definition":"Intellectuele achterstand - grof gelaat - macrocefalie - cerebellaire hypotrofie-syndroom is een zeldzaam, genetisch malformatiesyndroom van het centrale zenuwstelsel, en wordt gekarakteriseerd door vroeg aanvangende, progressieve, ernstige cerebellaire ataxie geassocieerd met progressieve, matige tot ernstige intellectuele achterstand, algehele ontwikkelingsachterstand, progressieve verruwing van de gelaatstrekken, relatieve macrocefalie en afwezigheid van insulten. Sensorineuraal gehoorverlies kan geassocieerd zijn. Beeldvorming van de hersenen toont cerebellaire atrofie/hypoplasie."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-facies grosseira-macrocefalia-hipotrofia cerebelosa","synonyms":["Ataxia espinocerebelosa tipo 20 autossómica recessiva","SCAR20","Síndrome de perturbação do desenvolvimento intelectual-facies grosseira-macrocefalia-hipoplasia cerebelosa"]},"pl":{"name":"Zespół niepełnosprawności intelektualnej, grubych rysów twarzy, wielkogłowia i hipotrofii móżdżku","synonyms":["Autosomalna recesywna ataksja rdzeniowo-móżdżkowa typu 20","SCAR20"],"definition":"*Zespół niepełnosprawności intelektualnej, grubych rysów twarzy, wielkogłowia i hipotrofii móżdżku jest rzadkim, genetycznie uwarunkowanym zespołem wad rozwojowych ośrodkowego układu nerwowego, który charakteryzuje się ciężką, postępującą ataksją móżdżkową o wczesnym początku, związaną z postępującą niepełnosprawnością intelektualną umiarkowanego lub ciężkiego stopnia, całościowym opóźnieniem rozwoju, postępującym pogrubieniem rysów twarzy, względnym małogłowiem, bez drgawek. Może towarzyszyć niedosłuch zmysłowo-nerwowy. W badaniach neuroobrazowych widoczna jest atrofia/hipoplazja móżdżku."},"cs":{"name":"Syndrom zahrnující mentální retardaci, hrubé rysy tváře, makrocefalii a cerebelární hypotrofii","synonyms":["Syndrom zahrnující mentální retardaci, hrubé rysy, makrocefalii a cerebelární hypoplázii","SCAR20","Autozomálně recesivní spinocerebelární ataxie, typ 20"]},"uk":{"name":"Синдром інтелектуальної недостатності-грубого обличчя-макроцефалії-гіпотрофії мозочка","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 20","Синдром інтелектуальної недостатності - грубого обличчя - макроцефалії - гіпоплазії мозочка","SCAR20"],"definition":"A rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia."},"zh":{"name":"智力障碍-粗糙面容-巨头-小脑萎缩综合征","synonyms":["常染色体隐性遗传性脊髓小脑共济失调20型"],"definition":"智力障碍-粗面-巨头-小脑发育不良综合征是一种罕见的遗传性中枢神经系统畸形综合征，其特征是早发的进行性重度小脑性共济失调，并伴有进行性、中至重度智力障碍、全面发育迟缓、面部特征进行性变粗、相对大头畸形且没有癫痫发作。感觉神经性听力损失可与本病有关。神经影像显示小脑萎缩/发育不良。"},"tr":{"name":"Zihinsel yetersizlik-kaba yüz-makrosefali-serebellar hipotrofi sendromu","synonyms":["Zihinsel yetersizlik-kaba yüz-makrosefali-serebellar hipoplazi sendromu","SCAR20","Otozomal çekinik spinoserebellar ataksi tip 20"]}},"xrefs":[{"source":"OMIM","code":"616354","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014601","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190595","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":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SNX14","name":"sorting nexin 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25439728[PMID]","hgnc":"14977","ensembl":"ENSG00000135317","omim":"616105","loci":["6q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27913285[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"27913285[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-02","source":"27913285[PMID]_25848753[PMID]_25439728[PMID]_24501761[PMID]","terms":[{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","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:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002219","label":"Facial hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010471","label":"Oligosacchariduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006951","label":"Retrocerebellar cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000350","label":"Small forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008443","label":"Spinal deformities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}