{"orpha":110,"name":"Bardet-Biedl syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BBS"],"definition":"A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-110/","orphanet_url":"https://www.orpha.net/en/disease/detail/110","names":{"fr":{"name":"Syndrome de Bardet-Biedl","synonyms":["BBS"],"definition":"Maladie multisystémique rare d'origine génétique caractérisée, de manière inconstante, par l'association d'une dystrophie rétinienne, d'une obésité, d'une polydactylie, d'anomalies génito-urinaires et rénales, de difficultés d'apprentissage et d'un hypogonadisme, et par de nombreux autres signes mineurs."},"de":{"name":"Bardet-Biedl-Syndrom","synonyms":["BBS"],"definition":"Eine seltene genetische Multisystemstörung, die durch die variable Assoziation von Netzhautdystrophie, Adipositas, Polydaktylie, Urogenital- und Nierenanomalien, Lernbehinderung und Hypogonadismus gekennzeichnet ist und mit einem breiten Spektrum an anderen geringfügigen Manifestationen einhergeht."},"es":{"name":"Síndrome de Bardet-Biedl","synonyms":["BBS"],"definition":"Es un trastorno multisistémico de origen genético poco frecuente caracterizado por la asociación variable de distrofia retiniana, obesidad, polidactilia, anomalías genitourinarias y renales, problemas de aprendizaje e hipogonadismo, con un amplio espectro de otras manifestaciones leves."},"it":{"name":"Sindrome di Bardet-Biedl","synonyms":["BBS"],"definition":"La sindrome di Bardet-Biedl (BBS) è una malattia genetica multisistemica rara, variabilmente caratterizzata da distrofia della retina, obesità, polidattilia, anomalie genitourinarie e renali, difficoltà di apprendimento e ipogonadismo, con un ampio spettro di altri segni clinici minori."},"nl":{"name":"Syndroom van Bardet-Biedl","synonyms":["BBS"],"definition":"Een zeldzame, genetische multisystemische aandoening, gekenmerkt door variabele associatie van retinadystrofie, obesitas, polydactylie, anomalieën van urogenitaal stelsel en nier, leerstoornis, en hypogonadisme, met een breed spectrum van andere geringe manifestaties."},"pt":{"name":"Síndrome Bardet-Biedl","synonyms":["BBS"],"definition":"Uma doença multissistémica genética rara caracterizada pela associação variável de distrofia da retina, obesidade, polidactilia, anomalias geniturinárias e renais, dificuldades de aprendizagem e hipogonadismo, com um amplo espetro de outras manifestações menores."},"pl":{"name":"Zespół Bardeta i Biedla","synonyms":["BBS"]},"cs":{"name":"Bardetův-Biedlův syndrom","synonyms":["BBS","Bardet-Biedlův syndrom"]},"uk":{"name":"Синдром Барде-Бідля","synonyms":["BBS"],"definition":"A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations."},"zh":{"name":"Bardet-Biedl综合征","synonyms":["BBS"]},"tr":{"name":"Bardet-Biedl 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(29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010747","label":"Medial flaring of the eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008376","label":"Nasal, dysarthic speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005769","label":"Fifth finger distal phalanx clinodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Very rare (<4-1%)","criteria":null}]}}