{"orpha":567502,"name":"B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BILU syndrome","Hoffman syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-567502/","orphanet_url":"https://www.orpha.net/en/disease/detail/567502","names":{"fr":{"name":"Syndrome de déficit immunitaire en lymphocytes B-anomalie des membres-malformation urogénitale","synonyms":["Syndrome BILU","Syndrome Hoffman"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par une quasi-absence de lymphocytes B, une hypogammaglobulinémie sévère, des anomalies des mains et des pieds, des malformations urogénitales et une dysmorphie faciale typique (microcéphalie, sourcils très arqués, hypoplasie des ailes du nez et micrognathie). Le développement de la plupart des patients est normal, bien que des cas de déficience intellectuelle modérée aient été rapportés."},"de":{"name":"B-Zell-Immundefekt-Extremitätenanomalien-urogenitale Fehlbildungen-Syndrom","synonyms":["BILU-Syndrom","Hoffman-Syndrom"],"definition":"Ein genetisch bedingtes Dysmorphie-Syndrom, das durch einen fast vollständigen Mangel an B-Zellen und eine schwere Hypogammaglobulinämie, Anomalien an Händen und Füßen, urogenitale Fehlbildungen und charakteristische Gesichtsdysmorphien (einschließlich Mikrozephalie, stark gewölbte Augenbrauen, hypoplastische Nasenflügel und Mikrognathie) gekennzeichnet ist. Die meisten Patienten sind zeigen eine normale Entwicklung, obwohl auch eine mäßige Intelligenzminderung beschrieben worden ist."},"es":{"name":"Síndrome de inmunodeficiencia de células B-anomalías de las extremidades-malformaciones urogenitales","synonyms":["Síndrome BILU","Síndrome de Hoffman"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples poco frecuente y de origen genético caracterizado por ausencia casi total de células B e hipogammaglobulinemia grave, anomalías de las manos y los pies, malformaciones urogenitales y dismorfia facial característica (que incluye microcefalia, cejas muy arqueadas, aletas nasales hipoplásicas y micrognatia). La mayoría de los pacientes experimenta un desarrollo normal, aunque también se ha descrito un retraso mental moderado."},"it":{"name":"Sindrome da immunodeficienza dei linfociti B, anomalie degli arti e malformazioni urogenitali","synonyms":["Sindrome BILU","Sindrome di Hoffman"]},"nl":{"name":"B-cel-immuundeficiëntie - ledemaatanomalieën - urogenitale malformaties-syndroom","synonyms":["BILU-syndroom","Syndroom van Hoffman"],"definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door nagenoeg volledige afwezigheid van B-cellen en ernstige hypogammaglobulinemie, anomalieën van handen en voeten, urogenitale malformaties, en typische faciale dysmorfie (met onder meer microcefalie, hoog gebogen wenkbrauwen, hypoplastische neusvleugels, en micrognathie). Ontwikkeling verloopt bij de meeste patiënten normaal, hoewel matige mentale retardatie ook reeds werd beschreven."},"pt":{"name":"Síndrome de imunodeficiência de células-B","definition":"Síndrome dismórfica/anomalias congénitas múltiplas genética, rara, caracterizada por ausência quase completa de células B e hipogamaglobulinemia grave, anomalias das mãos e pés, malformações urogenitais e dismorfia facial característico (incluindo microcefalia, sobrancelhas muito arqueadas, alae nasi hipoplásica e micrognatia). A maioria dos doentes apresenta desenvolvimento normal, embora também tenha sido descrita perturbação do desenvolvimento intelectual moderada."},"pl":{"name":"Zespół malformacji moczowo-płciowych, wad kończyn i niedoboru odporności związanej z komórkami B","synonyms":["BILU syndrome","Hoffman syndrome"],"definition":"Rzadki genetycznie uwarunkowany zespól mnogich wad wrodzonych/zespół dysmorficzny, charakteryzujący się prawie całkowitym brakiem komórek B i ciężką hipogammaglobulinemią, wadami dłoni i stóp, wadami układu moczowo-płciowego i charakterystyczną dysmorfią twarzy (z mikrocefalią, wysoko wysklepionymi brwiami, niedorozwojem skrzydełek nosa i mikrognacją). Większość pacjentów rozwija się prawidłowo, chociaż opisano również umiarkowane upośledzenie umysłowe."},"cs":{"name":"Syndrom zahrnující B-buněčnou imunodeficienci, anomálii končetin a urogenitální malformaci","synonyms":["BILU syndrome","Hoffman syndrome"]},"uk":{"name":"Синдром В-клітинного імунодефіциту-аномалії кінцівок-урогенітальних вад розвитку","synonyms":["Синдром BILU","Синдром Гофмана"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described."},"zh":{"name":"B细胞免疫缺陷-肢体异常-泌尿生殖器畸形综合征","synonyms":["霍夫曼综合征（甲状腺功能减退性肌病）"]},"tr":{"name":"B hücre immün yetmezliği-ekstremite anomalisi-ürogenital malformasyon sendromu","synonyms":["BILU sendromu","Hoffman sendromu"]}},"xrefs":[{"source":"OMIM","code":"609296","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":"attributed","validated":true},{"source":"MONDO","code":"0035454","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"12243","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"35454","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563745","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836437","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":229720,"name":"Syndromic agammaglobulinemia","classifications":[156,195]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"TOP2B","name":"DNA topoisomerase II beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31409799[PMID]","hgnc":"11990","ensembl":"ENSG00000077097","omim":"126431","loci":["3p24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"31409799[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_31409799[PMID]"}],"phenotypes":null}