{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-498448/","orphanet_url":"https://www.orpha.net/en/disease/detail/498448","names":{"fr":{"name":"Syndrome de croissance excessive ou grande taille avec atteinte osseuse"},"de":{"name":"Großwuchs oder Hochwuchs-Syndrom mit Skelettbeteiligung"},"es":{"name":"Síndrome de sobrecrecimiento o talla alta con afectación esquelética"},"it":{"name":"Iperaccrescimento/alta statura con interessamento extrascheletrico"},"nl":{"name":"Overgroei- of grote gestalte-syndroom met skeletale betrokkenheid"},"pt":{"name":"Síndrome de sobrecrescimento ou estatura elevada com envolvimento esquelético"},"pl":{"name":"Zespół nadmiermego wzrostu albo wysokiej sylwetki z zajęciem układu kostnego"},"cs":{"name":"Nadměrný vzrůst s postižením skeletu"},"uk":{"name":"Синдром надмірного росту або високого зросту з ураженням скелета"},"zh":{"name":"累及骨骼的过度生长或身材高大综合征"},"tr":{"name":"İskelet tutulumu ile seyreden aşırı büyüme veya uzun boy sendromu"}},"xrefs":[{"source":"UMLS","code":"C5681234","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":140944,"name":"CLOVES syndrome","type":"Malformation syndrome"},{"orpha":115,"name":"Congenital contractural arachnodactyly","type":"Malformation syndrome"},{"orpha":477831,"name":"Kosaki overgrowth syndrome","type":"Malformation syndrome"},{"orpha":60030,"name":"Loeys-Dietz syndrome","type":"Malformation syndrome"},{"orpha":597738,"name":"Luscan-Lumish syndrome","type":"Malformation syndrome"},{"orpha":558,"name":"Marfan syndrome","type":"Disease"},{"orpha":561,"name":"Marshall-Smith syndrome","type":"Malformation syndrome"},{"orpha":700325,"name":"NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome","type":"Malformation syndrome"},{"orpha":498488,"name":"Overgrowth syndrome with 2q37 translocation","type":"Malformation syndrome"},{"orpha":498485,"name":"Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome","type":"Malformation syndrome"},{"orpha":659387,"name":"PRC-2 complex-related overgrowth spectrum","type":"Clinical group"},{"orpha":744,"name":"Proteus syndrome","type":"Malformation syndrome"},{"orpha":821,"name":"Sotos syndrome","type":"Disease"},{"orpha":329191,"name":"Tall stature-long halluces-multiple extra-epiphyses syndrome","type":"Disease"},{"orpha":622925,"name":"X-linked severe syndromic thoracic aortic aneurysm and dissection","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}