{"orpha":562559,"name":"Anterior maxillary protrusion-strabismus-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MRAMS syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-562559/","orphanet_url":"https://www.orpha.net/en/disease/detail/562559","names":{"fr":{"name":"Syndrome de protrusion maxillaire antérieure-strabisme-déficience intellectuelle","synonyms":["Syndrome MRAMS"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par l'association d'une déficience intellectuelle sévère, d'un strabisme et d'une protrusion maxillaire avec un excès vertical maxillaire, une malocclusion et un encombrement dentaire, des dents proéminentes. Une légère perte d'audition touchant la cochlée a également été rapportée."},"de":{"name":"Vordere Oberkieferprotrusion-Strabismus-Intelligenzminderung-Syndrom","synonyms":["MRAMS-Syndrom"],"definition":"Ein genetisch bedingtes Dysmorphie-Syndrom, das durch eine schwere Intelligenzminderung, Strabismus und eine anteriore Protrusion des Oberkiefers mit vertikalem Oberkieferüberschuss, offenem Biss und auffälligem Zahnstand gekennzeichnet ist. Darüber hinaus wurde über eine leichte Innenohrschwerhörigkeit berichtet."},"es":{"name":"Síndrome de protrusión maxilar anterior-estrabismo-discapacidad intelectual","synonyms":["Síndrome MRAMS"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por la asociación de discapacidad intelectual grave, estrabismo y desplazamiento anterior del maxilar con exceso vertical del maxilar, mordida abierta y apiñamiento dental. Además, se ha descrito hipoacusia coclear leve."},"it":{"name":"Sindrome protrusione mascellare anteriore-strabismo-disabilità intellettiva","synonyms":["Sindrome MRAMS"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva grave, strabismo, protrusione anteriore della mascella che mostra una prevalenza verticale, morso aperto e denti affastellati e prominenti. Può associarsi ad una lieve perdita dell'udito di natura cocleare."},"nl":{"name":"Anterieure maxillaire protrusie - strabisme - intellectuele achterstand-syndroom","synonyms":["MRAMS-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door de associatie van ernstige intellectuele achterstand, strabisme, en anterieure protrusie van maxilla met verticale hypertrofie van maxilla, open beet, en opvallend ruimtegebrek van tanden. Bijkomend werd mild cochleair gehoorverlies gerapporteerd."},"pt":{"name":"Síndrome de protusão maxilar anterior-estrabismo-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół niepełnosprawności intelektualnej, protruzji szczęki i zeza","synonyms":["Zespół MRAMS"]},"cs":{"name":"Syndrom zahrnující přední čelistní protruzi, strabismus a mentální retardaci","synonyms":["MRAMS syndrome"]},"uk":{"name":"Синдром передньої верхньощелепної протрузії-косоокості-інтелектуальної недостатності","synonyms":["Синдром MRAMS"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition."},"zh":{"name":"上颌前突-斜视-智力障碍综合征","synonyms":["MRAMS综合征"]},"tr":{"name":"Anterior maksiller çıkıntı-şaşılık-zihinsel yetersizlik sendromu","synonyms":["MRAMS sendromu"]}},"xrefs":[{"source":"OMIM","code":"613671","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F72.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0013353","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150924","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":77830,"name":"Rare genetic odontologic disease","classifications":[156]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"SOBP","name":"sine oculis binding protein homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17618476[PMID]_21035105[PMID]","hgnc":"29256","ensembl":"ENSG00000112320","omim":"613667","loci":["6q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"17618476[PMID]_21035105[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17618476[PMID]_21035105[PMID]"}],"phenotypes":null}