{"orpha":85284,"name":"BRESEK syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BRESHECK syndrome"],"definition":"A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85284/","orphanet_url":"https://www.orpha.net/en/disease/detail/85284","names":{"fr":{"name":"Syndrome BRESEK","synonyms":["Syndrome BRESHECK"],"definition":"Le retard mental lié à l'X de type Reish est caractérisé par des anomalies du cerveau, un déficit intellectuel sévère, une dysplasie ectodermique, des déformations squelettiques (anomalies des vertèbres, scoliose, polydactylie), des anomalies des yeux et des oreilles (malformations, nerfs optiques peu développés, oreilles basses et larges et perte d'audition) et dysplasie/hypoplasie rénale (donnant l'acronyme BRESEK en anglais)."},"de":{"name":"BRESEK-Syndrom","synonyms":["BRESHECK-Syndrom"],"definition":"Der Typ Reish der X-chromosomalen Intelligenzminderung ist gekennzeichnet durch Hirnfehlbildungen (brain), schweres Intelligenzdefizit (retardation), ektodermale Dysplasie, Skelettanomalien (Wirbelanomalien, Skoliose, Polydaktylie), Ohren(ear)- und Augen(eye)anomalien (Fehlentwicklung; dünner Sehnerv; tiefsitzende, große Ohren; Schwerhörigkeit) und Nieren(kidney)-Dysplasie oder -Hypoplasie."},"es":{"name":"Síndrome BRESEK","synonyms":["Síndrome BRESHECK"],"definition":"El retraso mental ligado al X de tipo Reish se caracteriza por anomalías del cerebro, déficit intelectual grave, displasia ectodérmica, deformaciones esqueléticas (anomalías vertebrales, escoliosis, polidactilia), anomalías de ojos y orejas (malformaciones, nervios ópticos poco desarrollados, orejas grandes y de implantación baja y pérdida de audición) y displasia/hipoplasia renal (dándole el acrónimo de síndrome de BRESEK en inglés)."},"it":{"name":"Sindrome BRESEK","synonyms":["Sindrome BRESEK","Sindrome BRESHECK"]},"nl":{"name":"BRESEK-syndroom","synonyms":["BRESHECK-syndroom"],"definition":"Een zeldzaam genetisch syndroom met multipele congenitale malformaties, gekenmerkt door hersenanomalieën (verdunning van corpus callosum met dilatatie van ventrikels), intellectuele achterstand, ectodermale dysplasie, skeletmisvormingen (vertebrale anomalieën, scoliose, polydactylie), anomalieën van oor/oog (foutieve ontwikkeling, kleine oogzenuwen, laagstaande en grote oren met gehoorverlies), en dysplasie/hypoplasie van nier. In het geval dat deze klinische manifestatie ook geassocieerd is met ziekte van Hirschsprung en gespleten gehemelte of cryptorchisme, wordt de aandoening BRESHECK-syndroom genoemd."},"pt":{"name":"Síndrome BRESEK","synonyms":["Síndrome BRESHECK"],"definition":"O atraso mental, ligado ao X, tipo Reish é caracterizado por anomalias cerebrais, atraso mental grave, displasia ectodérmica, deformações esqueléticas (anomalias das vértebras, escoliose, polidactilia), anomalias da orelha/olho (anomalias do desenvolvimento, nervos óticos pequenos, orelhas baixamente inseridas e grandes com surdez) e displasia/hipoplasia renal (originando o acrónimo da síndrome de BRESEK)."},"pl":{"name":"Zespół BRESEK","synonyms":["Zespół BRESHECK"]},"cs":{"name":"BRESEK syndrom","synonyms":["BRESHECK syndrom"]},"uk":{"name":"Синдром BRESEK","synonyms":["Синдром BRESHECK"],"definition":"A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome."},"zh":{"name":"BRESEK综合征","synonyms":["BRESHECK综合征"]},"tr":{"name":"BRESEK sendromu","synonyms":["BRESHECK sendromu"]}},"xrefs":[{"source":"OMIM","code":"308205","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019414","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564519","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3502469","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"MBTPS2","name":"membrane bound transcription factor peptidase, site 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22105905[PMID]","hgnc":"15455","ensembl":"ENSG00000012174","omim":"300294","loci":["Xp22.12"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"24090718[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"9021007[PMID]","terms":[{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005343","label":"Hypoplasia of the bladder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003811","label":"Neonatal death","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null}]}}