{"orpha":69737,"name":"Bosley-Salih-Alorainy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the <i>HOXA1</i> gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69737/","orphanet_url":"https://www.orpha.net/en/disease/detail/69737","names":{"fr":{"name":"Syndrome de Bosley-Salih-Alorainy","definition":"Syndrome caractérisé par une anomalie variable du regard dans le sens horizontal, une surdité neurosensorielle profonde et bilatérale associée généralement à une malformation importante de l'oreille interne, des anomalies cérébrovasculaires (allant d'une hypoplasie unilatérale de l'artère carotide interne à une agénésie bilatérale), des malformations cardiaques, un retard de développement et, parfois, un autisme. Le syndrome est causé par des mutations homozygotes du gène <i>HOXA1</i> (7p15.2) et se transmet sur le mode autosomique récessif. Le syndrome se recoupe cliniquement et génétiquement avec la dysgénésie du tronc cérébral type Athabascan (ABDS). Cependant, contrairement à l'ABDS, le syndrome de Bosley-Salih-Alorainy ne présente pas d'hypoventilation centrale."},"de":{"name":"Bosley-Salih-Alorainy-Syndrom","definition":"Das Bosley-Salih-Alorainy-Syndrom (BSAS) ist gekennzeichnet durch eine variable horizontale Blickfunktionsstörung, tiefgreifende und bilaterale sensorineurale Taubheit, die häufig mit einer schweren Innenohrfehlentwicklung verbunden ist, zerebrovaskuläre Anomalien (die von einer einseitigen Hypoplasie der inneren Halsschlagader bis hin zur bilateralen Agenese reichen), Herzfehlbildung, Entwicklungsverzögerung und gelegentlich Autismus. Das Syndrom wird durch homozygote Mutationen im <i>HOXA1</i>-Gen (7p15.2) verursacht und autosomal-rezessiv übertragen. Das Syndrom überschneidet sich klinisch und genetisch mit dem Athabasken-Hirnstammdysgenesie-Syndrom (ABDS, s. dort). Im Gegensatz zum ABDS tritt beim BSAS jedoch keine zentrale Atmungsstörung auf."},"es":{"name":"Síndrome de Bosley-Salih-Aloainy","definition":"Este síndrome se caracteriza por una disfunción variable de la mirada horizontal, sordera neurosensorial profunda y bilateral asociada, por lo general, con una malformación importante del oído interno, anomalías cerebrovasculares (que varían desde hipoplasia unilateral de la arteria carótida interna a agenesia bilateral), malformación cardíaca, retraso en el desarrollo y, ocasionalmente, autismo. El síndrome está causado por mutaciones en homocigosis en el gen <i>HOXA1</i> (7p15.2) y se transmite de manera autosómica recesiva. El síndrome se solapa clínica y genéticamente con el síndrome de disfunción cerebral de Athabaskan (ABDS, por sus siglas en inglés). Sin embargo, a diferencia del ABDS, este síndrome no manifiesta hipoventilación central."},"it":{"name":"Sindrome di Bosley-Salih-Alorainy","definition":"La sindrome di Bosley-Salih-Alorainy (BSAS) è caratterizzata da anomalie variabili dello sguardo orizzontale e sordità neurosensoriale profonda e bilaterale, di solito associate a gravi anomalie dello sviluppo dell'orecchio interno, anomalie cerebrovascolari (dall'ipoplasia monolaterale fino all'agenesia bilaterale dell'arteria carotide interna), cardiopatie congenite, ritardo dello sviluppo e, raramente, autismo. La sindrome è causata dalle mutazioni omozigoti nel gene <i>HOXA1</i> (7p15.2); la trasmissione è autosomica recessiva. Dal punto di vista clinico e genetico, la malattia si sovrappone alla sindrome da disfunzione cerebrale tipo Athabaskan (ABDS), ma a differenza di quest'ultima, la BSAS non presenta ipoventilazione centrale."},"nl":{"name":"Syndroom van Bosley-Salih-Alorainy","definition":"Syndroom van Bosley-Salih-Alorainy (BSAS) wordt gekarakteriseerd door variabele oogbewegingsstoornissen in horizontale richting, volledige en bilaterale sensorineurale doofheid doorgaans geassocieerd met ernstig verstoorde ontwikkeling van het binnenoor, cerebrovasculaire anomalieën (gaande van unilaterale hypoplasie van de binnenste halsslagader tot bilaterale agenesie), hartmisvorming, ontwikkelingsachterstand en soms ook autisme. Het syndroom wordt veroorzaakt door homozygote mutaties in het gen <i>HOXA1</i> (7p15.2) en wordt overgedragen op een autosomaal recessieve manier. Het syndroom overlapt klinisch en genetisch met hersendisfunctiesyndroom van Athabaskan (ABDS). In tegenstelling tot ABDS, vertoont BSAS echter geen centrale hypoventilatie."},"pt":{"name":"Síndrome de Bosley-Salih-Alorainy"},"pl":{"name":"Zespół Bosley'a, Saliha i Alorainy'a"},"cs":{"name":"Bosleyho-Salihův-Alorainyho syndrom","synonyms":["Bosley-Salih-Alorainyho syndrom"]},"uk":{"name":"Синдром Бослі-Саліха-Алорейні","definition":"Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the <i>HOXA1</i> gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation."},"zh":{"name":"Bosley-Salih-Alorainy综合征"},"tr":{"name":"Bosley-Salih-Alorainy sendromu"}},"xrefs":[{"source":"OMIM","code":"601536","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1771217937"},{"source":"MONDO","code":"0019075","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832216","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98518,"name":"Congenital cranial dysinnervation disorder","classifications":[147,156,181]},{"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":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"HOXA1","name":"homeobox A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17875913[PMID]","hgnc":"5099","ensembl":"ENSG00000105991","omim":"142955","loci":["7p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"16155570[PMID]_17875913[PMID]_18412118[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16155570[PMID]_17875913[PMID]_18412118[PMID]"}],"phenotypes":null}