{"orpha":293707,"name":"Blepharophimosis-intellectual disability syndrome, MKB type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BMRS, MKB type","BMRS, Maat-Kievit-Brunner type","Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type","X-linked Ohdo syndrome"],"definition":"A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293707/","orphanet_url":"https://www.orpha.net/en/disease/detail/293707","names":{"fr":{"name":"Syndrome de blépharophimosis-déficience intellectuelle type MKB","synonyms":["BMRS type MKB","BMRS type Maat-Kievit-Brunner","Syndrome d'Ohdo lié à l'X","Syndrome de blépharophimosis-déficience intellectuelle type Maat-Kievit-Brunner"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique liée à l'X, affectant uniquement les garçons, caractérisée par un retard global de développement avec absence ou faible développement du langage, des anomalies urogénitales (dont hypoplasie du scrotum, micropénis et cryptorchidie), un comportement autistique et une dysmorphie faciale. Les traits caractéristiques de la dysmorphie faciale sont un ptosis, un blépharophimosis, une pointe de nez bulbeuse, un philtrum long et une hypoplasie maxillaire avec des joues pleines. Les autres caractéristiques variables sont une microcéphalie, une perte auditive, des anomalies dentaires et une hyperlaxité articulaire."},"de":{"name":"Blepharophimose-Intelligenzminderung-Syndrom Typ MKB","synonyms":["BMRS vom Typ Maat-Kievit-Brunner","BMRS, MKB-Typ","Blepharophimose-Intelligenzminderung-Syndrom, Typ Maat-Kievit-Brunner","Ohdo-Syndrom, X-chromosomales"],"definition":"Eine seltene, X-chromosomale syndromale Störung der intellektuellen Entwicklung, die nur Jungen betrifft und durch eine globale Entwicklungsverzögerung mit wenig oder fehlender Sprache, urogenitale Anomalien (inkl. Skrotalhypoplasie, Mikropenis und Kryptorchismus), autistisches Verhalten und Gesichtsdysmorphie gekennzeichnet ist. Charakteristische Gesichtsmerkmale sind Ptosis, Blepharophimose, eine knollige Nasenspitze, ein langes Philtrum und eine Maxillarhypoplasie mit vollen Wangen. Weitere variable Merkmale sind Mikrozephalie, Schwerhörigkeit, Zahnanomalien und hyperextensible Gelenke."},"es":{"name":"Síndrome de blefarofimosis-discapacidad intelectual tipo MKB","synonyms":["BMRS tipo MKB","BMRS tipo Maat-Kievit-Brunner","Síndrome de Ohdo ligado al cromosoma X","Síndrome de blefarofimosis-discapacidad intelectual tipo Maat-Kievit-Brunner"],"definition":"Es un trastorno sindrómico y poco frecuente de discapacidad intelectual ligado al cromosoma X que afecta únicamente a varones. Está caracterizado por un retraso global del desarrollo, con ausencia total o parcial del habla, anomalías urogenitales, incluyendo hipoplasia escrotal, micropene y criptorquidia, comportamiento autista y dismorfia facial. Los rasgos faciales más típicos son ptosis, blefarofimosis, punta nasal bulbosa, filtrum largo e hipoplasia maxilar con mejillas prominentes. Otros hallazgos variables incluyen microcefalia, hipoacusia, anomalías dentales e hiperlaxitud articular."},"it":{"name":"Sindrome blefarofimosi-disabilità intellettiva, tipo MKB","synonyms":["BMRS, tipo MKB","BMRS, tipo Maat-Kievit-Brunner","Sindrome blefarofimosi-disabilità cognitiva, tipo Maat-Kievit-Brunner","Sindrome di Ohdo legata all'X"],"definition":"Si tratta di una sindrome rara da disabilità intellettiva legata all'X che colpisce solo i maschi ed è caratterizzata da ritardo dello sviluppo globale, assenza o limitazione del linguaggio, anomalie urogenitali (ipoplasia dello scroto, micropene e criptorchidismo), tratti autistici e dismorfismi facciali. I dismorfismi caratteristici comprendono la ptosi, la blefarofimosi, la punta del naso globosa, il filtro lungo e l'ipoplasia mascellare con guance paffute. Altri segni clinici variabili sono la microcefalia, la sordità, le anomalie dei denti e l'iperlassità articolare."},"nl":{"name":"Blefarofimose - intellectuele achterstand-syndroom, MKB-type","synonyms":["BMRS, MKB-type","BMRS, Maat-Kievit-Brunner-type","Blefarofimose - intellectuele achterstand-syndroom, Maat-Kievit-Brunner-type","X-gebonden Ohdosyndroom"],"definition":"Een zeldzame, X-gebonden, syndromale intellectuele achterstand die enkel jongens treft en gekarakteriseerd wordt door algehele ontwikkelingsachterstand met weinig of geen spraak, urogenitale afwijkingen, waaronder hypoplasie van het scrotum, micropenis, en cryptorchisme, autistisch gedrag, en faciale dysmorfie. De meest typische gelaatskenmerken zijn ptose, blefarofimose, een bolle neuspunt, een lang filtrum, en maxillaire hypoplasie met volle kaken. Andere variabele kenmerken zijn onder meer microcefalie, gehoorverlies, gebitsanomalieën, en hypermobiele gewrichten."},"pt":{"name":"Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo MKB","synonyms":["BMRS, tipo MKB","BMRS, tipo Maat-Kievit-Brunner","Síndrome Ohdo ligada ao X","Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo Maat-Kievit-Brunner"]},"pl":{"name":"Zespół zwężenia szpar powiekowych i niepełnosprawności intelektualnej, typ MKB","synonyms":["BMRS, typ Maata, Kievita i Brunnera","BMRS, typu MKB","Zespół Ohdo sprzężony z chromosomem X","Zespół zwężenia szpar powiekowych i niepełnosprawności intelektualnej, typ Maata, Kievita i Brunnera"]},"cs":{"name":"Syndrom zahrnující blefarofimózu a mentální retardaci, typ MKB","synonyms":["BMRS, typ MKB","BMRS, typ Maat-Kievit-Brunner","Syndrom zahrnující blefarofimózu a omezení intelektu, typ Maat-Kievit-Brunner","X-vázaný Ohdoův syndrom"]},"uk":{"name":"Синдром блефарофімозу-інтелектуальної недостатності, тип MKB","synonyms":["Синдром блефарофімозу - інтелектуальної недостатності, тип Маат-Кієвіт-Бруннер","BMRS типу Маат-Київіт-Бруннер","BMRS, тип MKB","Х-зчеплений синдром Одо"],"definition":"A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints."},"zh":{"name":"睑裂-智力障碍综合征MKB型","synonyms":["小睑裂-智力迟滞综合征"],"definition":"一种罕见的X连锁综合征性智力障碍，只累及男孩，其特征是全面发育迟缓，很少或没有语言，泌尿生殖系统异常，包括阴囊发育不良、小阴茎和隐睾、自闭症行为和面部畸形。最典型的面部特征是上睑下垂、眼睑裂狭小、蒜头鼻、长人中、上颌发育不良、面颊丰满。其他可变特征包括小头畸形、听力损失、牙齿畸形和关节背伸过度。"},"tr":{"name":"Blefarofimoz-zihinsel yetersizlik sendromu, MKB tipi","synonyms":["BMRS, MKB tipi","X'e bağlı Ohdo sendromu","BMRS, Maat-Kievit-Brunner türü","Blefarofimoz-zihinsel yetersizlik sendromu, Maat-Kievit-Brunner tipi"]}},"xrefs":[{"source":"OMIM","code":"300895","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010477","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3698541","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":293642,"name":"Blepharophimosis-intellectual disability syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"MED12","name":"mediator complex subunit 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23395478[PMID]","hgnc":"11957","ensembl":"ENSG00000184634","omim":"300188","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-07","source":"16700052[PMID]","terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null}]}}