ORPHA:498448
Overgrowth or tall stature syndrome with skeletal involvement
- Type
- Category
- Group
- Group of disorders
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Overgrowth or tall stature syndrome with skeletal involvement | |
| fr | Syndrome de croissance excessive ou grande taille avec atteinte osseuse | |
| de | Großwuchs oder Hochwuchs-Syndrom mit Skelettbeteiligung | |
| es | Síndrome de sobrecrecimiento o talla alta con afectación esquelética | |
| it | Iperaccrescimento/alta statura con interessamento extrascheletrico | |
| nl | Overgroei- of grote gestalte-syndroom met skeletale betrokkenheid | |
| pt | Síndrome de sobrecrescimento ou estatura elevada com envolvimento esquelético | |
| pl | Zespół nadmiermego wzrostu albo wysokiej sylwetki z zajęciem układu kostnego | |
| cs | Nadměrný vzrůst s postižením skeletu | |
| uk | Синдром надмірного росту або високого зросту з ураженням скелета | |
| zh | 累及骨骼的过度生长或身材高大综合征 | |
| tr | İskelet tutulumu ile seyreden aşırı büyüme veya uzun boy sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681234 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (15):
- ORPHA:140944CLOVES syndrome
- ORPHA:115Congenital contractural arachnodactyly
- ORPHA:477831Kosaki overgrowth syndrome
- ORPHA:60030Loeys-Dietz syndrome
- ORPHA:597738Luscan-Lumish syndrome
- ORPHA:558Marfan syndrome
- ORPHA:561Marshall-Smith syndrome
- ORPHA:700325NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome
- ORPHA:498488Overgrowth syndrome with 2q37 translocation
- ORPHA:498485Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
- ORPHA:659387PRC-2 complex-related overgrowth spectrum
- ORPHA:744Proteus syndrome
- ORPHA:821Sotos syndrome
- ORPHA:329191Tall stature-long halluces-multiple extra-epiphyses syndrome
- ORPHA:622925X-linked severe syndromic thoracic aortic aneurysm and dissection
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/498448
- This record as JSON: /data/d/498448.json