ORPHA:2551
Microspherophakia-metaphyseal dysplasia syndrome
Synonyms: Verloes-Van Maldergem-de Marneffe syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microspherophakia-metaphyseal dysplasia syndrome | Verloes-Van Maldergem-de Marneffe syndrome |
| fr | Syndrome de microsphérophakie-dysplasie métaphysaire | Syndrome de Verloes-Van Maldergem-de Marneffe |
| de | Mikrosphärophakie - metaphysäre Dysplasie | |
| es | Síndrome de microesferofaquia-displasia metafisaria | Síndrome de Verloes-Van Maldergem-Marneffe |
| it | Microsferofachia - displasia metafisaria | Sindrome di Verloes-Van Maldergem-Marneffe |
| nl | Microsferofakie - metafysaire dysplasie-syndroom | Syndroom van Verloes-Van Maldergem-de Marneffe |
| pt | Síndrome de microsferofaquia-displasia metafisária | Síndrome Verloes-Van Maldergem-Marneffe |
| pl | Soczewka mała i kulista - dysplazja przynasadowa | Zespół Verloesa, Van Maldergem i de Marneffe |
| cs | Syndrom zahrnující mikrosféroplakii a metafyzární dysplázii | Verloesův-Van Maldergemův-de Marneffeové syndrom · Verloes-Van Maldergem-de Marneffeové syndrom |
| uk | Синдром мікросферофакії-метафізарної дисплазії | Синдром Верлоеса-Ван Мальдергема-де-Марнеффе |
| zh | 小球形晶状体-干骺端发育不良综合征 | Verloes-Van Maldergem-de Marneffe综合征 |
| tr | Mikrosferofaki-metafizer displazi sendromu | Verloes-Van Maldergem-de Marneffe sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 157151 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0007998 | E | validated | |
| UMLS | C4510377 | E | validated | |
| GARD | 5481 | 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 (5):
- ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic diseases - ORPHA:519294Syndromic microspherophakia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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
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/2551
- This record as JSON: /data/d/2551.json