ORPHA:3409
Urban-Rogers-Meyer syndrome
Synonyms: Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Urban-Rogers-Meyer syndrome | Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome |
| fr | Syndrome d'Urban-Rogers-Meyer | Syndrome d'habitus Prader-Willi-ostéopénie-camptodactylie · Syndrome de déficience intellectuelle-petite taille-mains contracturées-anomalies génitales |
| de | Urban-Rogers-Meyer-Syndrom | Prader-Willi-Habitus mit Osteopenie und Kamptodaktylie · Syndromale Intelligenzminderung mit Kleinwuchs, Handkontrakturen und Genitalanomalien |
| es | Síndrome de Urban-Rogers-Meyer | Síndrome de discapacidad intelectual-talla baja-contracturas en las manos-anomalías genitales · Síndrome de hábito de Prader-Willi-osteopenia-camptodactilia |
| it | Sindrome di Urban-Rogers-Meyer | Sindorme habitus Prader-Willi-osteopenia-camptodattilia · Sindrome disabilità intellettiva-bassa statura-contratture delle mani-anomalie genitali |
| nl | Syndroom van Urban-Rogers-Meyer | Intellectuele achterstand - kleine gestalte - handcontracturen - genitale anomalieën-syndroom · Prader-Willi-habitus - osteopenie - camptodactylie-syndroom |
| pt | Síndrome Urban-Rogers-Meyer | Síndrome de habitus Prader-Willi-osteopenia-campodactilia · Síndrome de perturbação do desenvolvimento intelectual-baixa estatura-contraturas da mão-anomalias genitais |
| pl | Zespół Urbana, Rogersa i Meyera | Fenotyp przypominający zespół Pradera i Williego - osteopenia - kamptodaktylia · Niepełnosprawność intelektualna - niski wzrost - przykurcze rąk - anomalie narządów płciowych |
| cs | Urbanův-Rogersův-Meyerův syndrom | Syndrom zahrnující mentální retardaci, malý vzrůst, kontraktury ruky a anomálie genitálu · Syndrom zahrnující Praderův-Williho habitus, osteopenii a kamptodaktylii · Urban-Rogers-Meyerův syndrom · Syndrom zahrnující Prader-Williho habitus, osteopenii a kamptodaktylii |
| uk | Синдром Урбана-Роджерса-Мейєра | Синдром інтелектуальної недостатності - низькорослості - контрактури рук - генітальних аномалій · Синдром габітусу-остеопенії-камптодактилії Прадера-Віллі |
| zh | Urban-Rogers-Meyer综合征 | 智力障碍-矮小-手挛缩-生殖器畸形综合征 |
| tr | Urban-Rogers-Meyer sendromu | Prader-Willi habitus-osteopeni-kamptodaktili sendromu · Zihinsel yetersizlik-kısa boy-el kontraktürleri-genital anomaliler sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264010 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009905 | E | validated | |
| MeSH | C538276 | E | validated | |
| UMLS | C0796189 | E | validated | |
| GARD | 5426 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 758422[PMID]_3239569[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_758422[PMID]_3239569[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0005830 | Flexion contracture of toe | |
| HP:0000135 | Hypogonadism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0001513 | Obesity | |
| HP:0000939 | Osteoporosis | |
| HP:0002757 | Recurrent fractures | |
| Frequent (79-30%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0002808 | Kyphosis | |
| HP:0000396 | Overfolded helix | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001773 | Short foot | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0001770 | Toe syndactyly | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0000288 | Abnormality of the philtrum | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0000347 | Micrognathia | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3409
- This record as JSON: /data/d/3409.json