{"orpha":2143,"name":"Donnai-Barrow syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DBS/FOAR syndrome","Diaphragmatic hernia-exomphalos-hypertelorism syndrome","Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome","Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome","FOAR syndrome","Facio-oculo-acoustico-renal syndrome","Holmes-Schepens syndrome","Syndrome of ocular and facial anomalies, telecanthus and deafness","Syndrome of ocular and facial anomalies, telecanthus and hearing loss"],"definition":"A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2143/","orphanet_url":"https://www.orpha.net/en/disease/detail/2143","names":{"fr":{"name":"Syndrome de Donnai-Barrow","synonyms":["Syndrome DBS/FOAR","Syndrome FOAR","Syndrome de Holmes-Schepens","Syndrome de hernie diaphragmatique-hypertélorisme-myopie-surdité","Syndrome de hernie diaphragmatique-omphalocèle-hypertélorisme","Syndrome des anomalies oculaires et faciales-télécanthus-surdité","Syndrome facio-oculo-acoustico-rénal"],"definition":"Syndrome d'anomalies congénitales multiples caractérisé par une dysmorphie faciale typique, une myopie et d'autres troubles de la vision, une perte auditive, une agénésie du corps calleux, une protéinurie à faible poids moléculaire et une déficience intellectuelle variable. Une hernie diaphragmatique congénitale (HDC) et/ou une omphalocèle sont fréquentes."},"de":{"name":"Donnai-Barrow-Syndrom","synonyms":["DBS/FOAR-Syndrom","FOAR-Syndrom","Fazio-okulo-akustiko-renales Syndrom","Holmes-Schepens-Syndrom","Syndrom der Augen- und Gesichtanomalien mit Telekanthus und Schwerhörigkeit","Zwerchfellhernie-Exomphalos-Hypertelorismus-Syndrom","Zwerchfellhernie-Hypertelorismus-Myopie-Schwerhörigkeit-Syndrom"],"definition":"Ein Syndrom mit multiplen angeborenen Fehlbildungen, das durch typische Gesichtsdysmorphien, Myopie und andere Augenbefunde, Schwerhörigkeit, Agenesie des Corpus callosum, niedermolekulare Proteinurie und unterschiedliche intellektuelle Entwicklungsstörungen gekennzeichnet ist. Eine kongenitale Zwerchfellhernie (CDH) und/oder eine Omphalozele sind häufig."},"es":{"name":"Síndrome de Donnai-Barrow","synonyms":["Síndrome DBS/FOAR","Síndrome FOAR","Síndrome de Holmes-Schepens","Síndrome de anomalias oculares y faciales, telecanto e hipoacusia","Síndrome de anomalias oculares y faciales, telecanto y sordera","Síndrome de hernia diafragmática-hipertelorismo-miopía-hipoacusia","Síndrome de hernia diafragmática-hipertelorismo-miopía-sordera","Síndrome de hernia diafragmática-onfalocele-hipertelorismo","Síndrome facio-oculo-acústico-renal"],"definition":"Es un síndrome polimalformativo congénito caracterizado por dismorfia facial característica, miopía y otros hallazgos oculares, pérdida auditiva, agenesia del cuerpo calloso, proteinuria de bajo peso molecular y discapacidad intelectual variable. También son comunes la hernia diafragmática congénita (HDC) y/o el onfalocele."},"it":{"name":"Sindrome di Donnai-Barrow","synonyms":["Sindrome DBS/FOAR","Sindrome FOAR","Sindrome anomalia oculari e facciali-telecanto-sordità","Sindrome di Holmes-Schepens","Sindrome ernia diaframmatica-esonfalo-ipertelorismo","Sindrome ernia diaframmatica-ipertelorismo-miopia-sordità","Sindrome facio-oculo-acustico-renale"],"definition":"È una sindrome da malformazioni congenite multiple, caratterizzata da dismorfismi facciali, miopia e altre anomalie oculari, sordità, agenesia del corpo calloso, proteinuria a basso peso molecolare e disabilità intellettiva di grado variabile. Spesso i pazienti presentano ernia diaframmatica congenita (CDH) e/o onfalocele."},"nl":{"name":"Syndroom van Donnai-Barrow","synonyms":["DBS/FOAR-syndroom","FOAR-syndroom","Facio-oculo-acoustico-renaal syndroom","Hernia diaphragmatica - exomphalos - hypertelorisme-syndroom","Hernia diaphragmatica - hypertelorisme - myopie - doofheid-syndroom","Middenrifbreuk - navelbreuk - hypertelorisme-syndroom","Syndroom van Holmes-Schepens","Syndroom van oculaire en faciale anomalieën, telecanthus en doofheid"],"definition":"Een meervoudige congenitale malformatiesyndroom dat gekarakteriseerd wordt door typische faciale dysmorfie, myopie en andere oculaire bevindingen, gehoorverlies, agenesie van het corpus callosum, proteïnurie van eiwitten met een laag moleculair gewicht, en variabele intellectuele achterstand. Congenitale diafragmatische hernia (CDH) en/of omfalocèle komen vaak voor."},"pt":{"name":"Síndrome Donnai-Barrow","synonyms":["Síndrome de hérnia diafragmática-onfalocelo-agenesia do corpo caloso"]},"pl":{"name":"Zespół Donnai i Barrowa","synonyms":["Zespół DBS/FOAR","Zespół FOAR","Zespół Holmesa i Schepensa","Zespół przepuklina przepony-przepuklina pępowinowa-hiperteloryzm","Zespół przepuklina przpony-hiperteloryzm-miopia-głuchota","Zespół twarzowo-oczno-uszno-nerkowy","Zespół z wadami oczu i twarzy, telekantusem i głuchotą"],"definition":"Zespół Donnai i Barrowa (DBS) to rzadki, często ciężki, złożony zespół wad wrodzonych z typową dysmorfią twarzy, objawami ocznymi, utratą słuchu, agenezją ciała modzelowatego i niepełnosprawnością intelektualną o różnym nasileniu. Często występuje wrodzona przepuklina przepony (CDH) i(lub) przepuklina pępowinowa."},"cs":{"name":"Donnaiové-Barrowové syndrom","synonyms":["DBS/FOAR syndrom","FOAR syndrom","Faciookuloakustikorenální syndrom","Syndrom okulárních a faciálních anomálií, telekantu a hluchoty","Syndrom zahrnující brániční kýlu, exomfalos a hypertelorismus","Syndrom zahrnující brániční kýlu, hypertelorismus, myopii a hluchotu","Holmesův-Schepensův syndrom","Donnai-Barrowové syndrom","Holmes-Schepensův syndrom"]},"uk":{"name":"Синдром Доннаї-Берроу","synonyms":["Синдром DBS/FOAR","Синдром діафрагмальної грижі-екзомфало-гіпертелоризму","Синдром діафрагмальної грижи-гіпертелоризму-міопії-глухоти","Синдром діафрагмальної грижи - гіпертелоризму - короткозорості - втрати слуху","Лицьово-окуло-акустично-нирковий синдром","Синдром FOAR","Синдром Холмса-Шепенса","Синдром очних та лицевих аномалій, телекант і глухота","Синдром очних та лицевих аномалій, телекант та втрата слуху"],"definition":"A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common."},"zh":{"name":"Donnai-Barrow综合征","synonyms":["眼面异常综合征，内眦距过宽和听力损失综合征"]},"tr":{"name":"Donnai-Barrow sendromu","synonyms":["FOAR sendromu","DBS / FOAR sendromu","Holmes-Schepens sendromu","Fasiyo-okülo-akustik-renal sendrom","Diyafragmatik herni-ekzomfalos-hipertelorizm sendromu","Diyafragmatik herni-hipertelorizm-miyopi-sağırlık sendromu","Diyafragmatik herni-hipertelorizm-miyopi-işitme kaybı sendromu","Oküler ve fasiyal anomaliler, telekantus ve sağırlık sendromu","Oküler ve fasiyal anomalileri, telekantus ve işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"222448","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1171547698"},{"source":"MONDO","code":"0009104","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536390","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857277","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1899","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]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[],"genes":[{"symbol":"LRP2","name":"LDL receptor related protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301732[PMID]","hgnc":"6694","ensembl":"ENSG00000081479","omim":"600073","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":null,"terms":[{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}