{"orpha":401777,"name":"Optic atrophy-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BBSOAS","Bosch-Boonstra-Schaaf optic atrophy syndrome"],"definition":"Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401777/","orphanet_url":"https://www.orpha.net/en/disease/detail/401777","names":{"fr":{"name":"Syndrome d'atrophie optique-déficience intellectuelle","synonyms":["BBSOAS","Syndrome d'atrophie optique Bosch-Boonstra-Schaaf"],"definition":"Déficience intellectuelle syndromique héréditaire rare d'origine génétique caractérisée par un retard de développement, une déficience intellectuelle et une déficience visuelle importante due à une atrophie et à une hypoplasie du nerf optique ou à une déficience visuelle d'origine cérébrale. Les autres signes cliniques et symptômes courants sont une hypotonie, une altération de la fonction oromotrice, des crises convulsives, des troubles du spectre de l'autisme et des comportements répétitifs. La dysmorphie faciale est variable et non spécifique."},"de":{"name":"Optikusatrophie-Intelligenzminderung-Syndrom","synonyms":["BBSOAS","Bosch-Boonstra-Schaaf-Syndrom"]},"es":{"name":"Síndrome de atrofia óptica-discapacidad intelectual","synonyms":["Síndrome de atrofia óptica de Bosch-Boonstra-Schaaf"],"definition":"El síndrome de atrofia óptica - discapacidad intelectual, es una discapacidad intelectual sindrómica, hereditaria y poco frecuente, caracterizada por retraso en el desarrollo, discapacidad intelectual y disfunción visual secundaria a atrofia o hipoplasia del nervio óptico o de origen cerebral. Otros signos y síntomas clínicos comunes son hipotonía, disfunción motora oral, crisis epilépticas, trastornos del espectro autista y comportamientos repetitivos. Los rasgos faciales dismórficos son variables e inespecíficos."},"it":{"name":"Sindrome atrofia ottica-deficit cognitivo","definition":"La sindrome che associa l'atrofia ottica e la disabilità intellettiva è una disabilità intellettiva sindromica ereditaria rara, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, grave compromissione della vista secondaria all'atrofia del nervo ottico, ipoplasia del nervo ottico o compromissione della vista di origine cerebrale. Altri segni clinici comuni sono l'ipotonia, la disfunzione oro-motoria, le crisi epilettiche, i disturbi dello spettro autistico e i comportamenti ripetitivi. I dismorfismi facciali associati sono variabili ed aspecifici."},"nl":{"name":"Opticusatrofie - intellectuele achterstand-syndroom","synonyms":["BBSOAS","Syndroom van opticusatrofie van Bosch-Boonstra-Schaaf"],"definition":"Opticusatrofie - intellectuele achterstand-syndroom is een zeldzame, erfelijke, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door ontwikkelingsachterstand, intellectuele achterstand, en significante visuele beperking door atrofie van de oogzenuw, hypoplasie van de oogzenuw of cerebrale visuele stoornis. Andere vaak voorkomende klinische tekenen en symptomen zijn hypotonie, oromotorische disfunctie, insulten, autismespectrumstoornis, en repetitief gedrag. Dysmorfe gelaatskenmerken zijn variabel en niet-specifiek."},"pt":{"name":"Síndrome de atrofia óptica-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół atrofia nerwu wzrokowego-niepełnosprawność intelektualna","synonyms":["BBSOAS","Bosch-Boonstra-Schaaf optic atrophy syndrome"],"definition":"*Zespół atrofia nerwu wzrokowego i niepełnosprawność intelektualna jest rzadkim, dziedzicznym zespołem niepełnosprawności intelektualnej, który charakteryzuje się opóźnieniem rozwoju, niepełnosprawnością intelektualną i znacznym upośledzeniem widzenia z powodu zaniku lub niedorozwoju nerwu wzrokowego lub o charakterze ośrodkowym. Inne częste objawy kliniczne to obniżenie napięcia mięśniowego, dysfunkcja ruchowa mięśni jamy ustnej, drgawki, zaburzenia ze spektrum autyzmu i obsesyjne powtarzanie niektórych zachowań. Dysmorficzne cechy twarzy są zmienne i niespecyficzne.inf brsup inf brsup"},"cs":{"name":"Syndrom zahrnující atrofii optiku a mentální retardaci","synonyms":["BBSOAS","Bosch-Boonstra-Schaaf optic atrophy syndrome"]},"uk":{"name":"Синдром атрофії зорового нерва - інтелектуальної недостатності","synonyms":["BBSOAS","Синдром атрофії зорового нерва Боша-Бунстра-Шаафа"],"definition":"Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific."},"zh":{"name":"视神经萎缩-智力障碍综合征","synonyms":["Bosch-Boonstra-Schaaf视神经萎缩综合征"],"definition":"视神经萎缩-智力障碍综合征是一种罕见的遗传性综合征候性智力障碍，其特征是发育迟缓、智力障碍和由于视神经萎缩、视神经发育不良或脑视力障碍造成的严重视力障碍。本病的其他常见的临床症状和体征有肌张力低下、运动功能障碍、癫痫发作、自闭症谱系障碍和重复行为。面部畸形特征多变且呈非特异。"},"tr":{"name":"Optik atrofi-zihinsel yetersizlik sendromu","synonyms":["BBSOAS","Bosch-Boonstra-Schaaf optik atrofi sendromu"]}},"xrefs":[{"source":"OMIM","code":"615722","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C40.B0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014320","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810363","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083269","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"NR2F1","name":"nuclear receptor subfamily 2 group F member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24462372[PMID]","hgnc":"7975","ensembl":"ENSG00000175745","omim":"132890","loci":["5q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"24462372[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24462372[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-04","source":"26986877[PMID]_28963436[PMID]_24462372[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008762","label":"Repetitive compulsive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003194","label":"Short nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025100","label":"Abnormal hippocampus morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very rare (<4-1%)","criteria":null}]}}