{"orpha":141333,"name":"Biemond syndrome type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome"],"definition":"Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141333/","orphanet_url":"https://www.orpha.net/en/disease/detail/141333","names":{"fr":{"name":"Syndrome de Biemond type 2","synonyms":["Syndrome d'hypogonadisme-petite taille-colobome-polydactylie préaxiale"],"definition":"Maladie neurologique et du développement génétique rare, rapportée chez un nombre très limité de patients. Le phénotype est mal défini et comprend un colobome de l'iris, une petite taille, une obésité, un hypogonadisme, une polydactylie post-axiale et une déficience intellectuelle. Des cas d'hydrocéphalie et de dysostose faciale ont également été décrits. Le syndrome de Biemond type&nbsp;2 (SB2) partage certains signes cliniques avec le syndrome de Bardet-Biedl. Les derniers cas décrits dans la littérature remontent à 1997."},"de":{"name":"Biemond-Syndrom Typ 2","synonyms":["Hypogonadismus-Kleinwuchs-Kolobom-präaxiale Polydaktylie-Syndrom"],"definition":"Das Biemond-Syndrom Typ 2 (BS2) ist eine seltene, genetisch bedingte, neurologische Erkrankung mit Entwicklungsstörung. Sie wurde bisher bei einer sehr kleinen Anzahl von Patienten mit einem dürftig definierten Phänotyp beschrieben. Zu diesem Phänotyp gehören Iriskolobome, Kleinwuchs, Adipositas, Hypogonadismus, postaxiale Polydaktylie und Intelligenzminderung. Zusätzlich wurden ein Hydrozephalus und faziale Dysostose berichtet. Das BS2 zeigt Ähnlichkeiten mit dem Bardet-Biedl-Syndrom. Seit 1997 wurde das Syndrom nicht näher definiert."},"es":{"name":"Síndrome de Biemond tipo 2","synonyms":["Síndrome de hipogonadismo-talla baja-coloboma-polidactilia preaxial"],"definition":"Es un trastorno neurológico y del desarrollo genético y poco frecuente descrito en un número muy reducido de pacientes con un fenotipo mal definido que incluye coloboma del iris, talla baja, obesidad, hipogonadismo, polidactilia postaxial y discapacidad intelectual. También se ha descrito hidrocefalia y disostosis facial. Este síndrome comparte algunos rasgos con el síndrome de Bardet-Biedl. No se han descrito más casos en la literatura desde 1997."},"it":{"name":"Sindrome di Biemond, tipo 2","synonyms":["Sindrome ipogonadismo-bassa statura-coloboma-polidattilia preassiale"],"definition":"La sindrome di Biemond tipo 2 (BS2) è una malattia neurologica e dello sviluppo, rara, di natura genetica, descritta in un numero molto limitato di pazienti. Il fenotipo è male definito e comprende il coloboma dell'iride, la bassa statura, l'obesità, l'ipogonadismo, la polidattilia postassiale e la disabilità intellettiva. Possono anche essere presenti idrocefalo e disostosi facciale. La BS2 condivide una serie di segni clinici con la sindrome di Bardet-Biedl. Gli ultimi casi descritti risalgono al 1997."},"nl":{"name":"Syndroom van Biemond type 2","synonyms":["Hypogonadisme - kleine gestalte - coloboom - preaxiale polydactylie-syndroom"],"definition":"Syndroom van Biemond type 2 (BS2) is een zeldzame, genetische neurologische en ontwikkelingsstoornis die werd gerapporteerd bij een zeer klein aantal patiënten met een weinig gedefinieerd fenotype, met onder meer iriscoloboom, kleine gestalte, obesitas, hypogonadisme, postaxiale polydactylie, en intellectuele achterstand. Hydrocefalus en faciale dysostose werden ook gerapporteerd. BS2 deelt kenmerken met syndroom van Bardet-Biedl. Sinds 1997 zijn er geen bijkomende beschrijvingen te vinden in de literatuur."},"pt":{"name":"Síndrome Biemon tipo 2"},"pl":{"name":"Zespół Biemonda typu 2","synonyms":["Zespół hipogonadyzm-niski wzrost-szczelina-polidaktylia przedosiowa"]},"cs":{"name":"Biemondův syndrom, typ 2","synonyms":["Syndrom zahrnující hypogonadismus, malý vzrůst, kolobom a preaxiální polydaktylii"]},"uk":{"name":"Синдром Бімонда, тип 2","synonyms":["Синдром гіпогонадизму - низького зросту - колобоми - преаксіальної полідактилії"],"definition":"Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997."},"zh":{"name":"Biemond 综合征2型","synonyms":["性腺功能减退-矮小-眼组织缺损-轴前性多指综合征"],"definition":"Biemond综合征2型（BS2）是一种罕见的遗传性神经和发育障碍，在极少数患者中有明确表型，包括虹膜缺损、身材矮小、肥胖、性腺功能减退、轴后性多指(趾)畸形和智力障碍。脑积水和面部骨发育不全也有报道。BS2与Bardet-Biedl综合征有相同特征。自1997年以来，还未有更新的文献报道。"},"tr":{"name":"Biemond sendromu tip 2","synonyms":["Hipogonadizm-kısa boy-kolobom-preaksiyel polidaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"210350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008864","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565902","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859487","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"882","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":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9098485[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-05","source":"9098485[PMID]_13109178[PMID]","terms":[{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005321","label":"Mandibulofacial dysostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100258","label":"Preaxial polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}