{"orpha":75325,"name":"Osteosclerosis-ichthyosis-premature ovarian failure syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome"],"definition":"A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75325/","orphanet_url":"https://www.orpha.net/en/disease/detail/75325","names":{"fr":{"name":"Syndrome d'ostéosclérose-ichtyose-insuffisance ovarienne précoce","synonyms":["Syndrome de dysplasie sclérosante des os-ichtyose-ménopause précoce"],"definition":"Maladie génétique rare caractérisée par une dysplasie sclérosante touchant les régions métaphysaires et diaphysaires des os longs, le crâne et les métacarpiens, associée à des troubles cutanés similaires à ceux observés en cas d'ichtyose vulgaire et d'insuffisance ovarienne précoce accompagnée d'une hypoplasie bilatérale des ovaires. Le syndrome se déclare à l'âge adulte, principalement par un oedème des extrémités et par une légère douleur occasionnelle dans les jambes."},"de":{"name":"Osteosklerose-Ichthyose-vorzeitige Ovarialinsuffizienz-Syndrom","synonyms":["Syndrom der sklerosierenden Knochendysplasie mit Ichthyose und vorzeitiger Ovarialinsuffizienz"],"definition":"Eine seltene genetische Erkrankung, die durch eine sklerosierende Knochendysplasie gekennzeichnet ist, die die diaphysären und metaphysären Bereiche der langen Knochen sowie den Schädel und die Mittelhandknochen betrifft und mit Hautveränderungen einhergeht, wie sie bei der Ichthyosis vulgaris und der vorzeitigen Ovarialinsuffizienz mit bilateraler Hypoplasie der Eierstöcke auftreten. Die Patienten stellen sich im Erwachsenenalter vor, hauptsächlich mit Schwellungen der Extremitäten und gelegentlich leichten Schmerzen in den Beinen."},"es":{"name":"Síndrome de osteosclerosis-ictiosis-fallo ovárico prematuro","synonyms":["Displasia esclerosante de esqueleto-ictiosis-fallo ovárico prematuro","Displasia esclerosante del hueso-ictiosis-fallo ovárico prematuro"],"definition":"Es una enfermedad de base genética poco frecuente caracterizada por displasia esclerosante que afecta las regiones diafisaria y metafisaria de los huesos largos, así como al cráneo y a los metacarpianos, acompañada de alteraciones cutáneas como las observadas en la ictiosis vulgar e insuficiencia ovárica precoz con hipoplasia ovárica bilateral. Las pacientes se presentan en la edad adulta, principalmente con hinchazón de las extremidades y leve dolor ocasional en las piernas."},"it":{"name":"Sindrome disabilità intellettiva-debolezza muscolare-bassa statura-dismorfismi facciali","synonyms":["Displasia ossea sclerosante - ittiosi - insufficienza ovarica precoce"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da displasia sclerosante che interessa le diafisi e le metafisi delle ossa lunghe, il cranio e i metacarpi, associata ad alterazioni cutanee simili a quelle caratteristiche dell'ittiosi volgare, e ad insufficienza ovarica precoce con ipoplasia bilaterale delle ovaie. La malattia esordisce nell'età adulta, per lo più con gonfiore degli arti e, occasionalmente, con dolore lieve alle gambe."},"nl":{"name":"Osteosclerose - ichthyosis - vroegtijdig ovariumfalen-syndroom","synonyms":["Scleroserende dysplasie van het bot - ichthyosis - vroegtijdig ovariumfalen-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door scleroserende dysplasie die diafysaire en metafysaire regio's van pijpbeenderen aantast, alsook schedel en metacarpalen, geassocieerd met veranderingen van huid zoals waargenomen worden bij ichthyosis vulgaris en prematuur ovariumfalen met bilaterale hypoplasie van eierstokken. Patiënten presenteren zich in de volwassenheid, vooral met zwelling van extremiteiten en soms milde pijn in de benen."},"pt":{"name":"Síndrome de osteosclerose-ictiose-insuficiência ovárica precoce","synonyms":["Síndrome de displasia esclerosante do osso-ictiose-insuficiência ovárica precoce"]},"pl":{"name":"Osteoskleroza - rybia łuska - przedwczesne wygasanie czynności jajników","synonyms":["Stwardniająca dysplazja kości - rybia łuska - przedwczesne wygasanie czynności jajników"]},"cs":{"name":"Syndrom zahrnující osteosklerózu, ichtyózu a předčasné ovariální selhání","synonyms":["Syndrom zahrnující sklerotizující dysplázii kostí, ichtyózu a předčasné ovariální selhání"]},"uk":{"name":"Синдром остеосклерозу-іхтіозу-передчасного виснаження яєчників","synonyms":["Синдром склерозуючої дисплазії кісток-іхтіозу- передчасного виснаження яєчників"],"definition":"A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs."},"zh":{"name":"骨硬化-鱼鳞癣-卵巢早衰综合征","synonyms":["骨硬化性发育不良-鱼鳞癣-卵巢早衰综合征"]},"tr":{"name":"Osteoskleroz-iktiyoz-prematüre over yetmezliği sendromu","synonyms":["Kemik iktiyozu-erken yumurtalık yetmezliği sendromunun sklerozan displazisi"]}},"xrefs":[{"source":"OMIM","code":"609993","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"648131928"},{"source":"MONDO","code":"0012387","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536064","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302815","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9904","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]},{"orpha":399853,"name":"Rare female infertility due to an anomaly of ovarian function","classifications":[201]},{"orpha":400022,"name":"Rare female infertility due to an anomaly of ovarian function of genetic origin","classifications":[156]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15995452[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":null,"terms":[{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Very frequent (99-80%)","criteria":null}]}}