ORPHA:231736
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Synonyms: MPPC syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome | MPPC syndrome |
| fr | Syndrome de microcornée-mégalolenticône postérieur-persistance du tissu vasculaire foetal-colobome | Syndrome MPPC |
| de | Mikrokornea-Vorderer Lentikonus-persistierender primärer Vitreus-Kolobom-Syndrom | MPCC-Syndrom |
| es | Síndrome de microcórnea-megalolenticonus posterior-persistencia de la vasculatura fetal-coloboma | Síndrome MPCC |
| it | Sindrome da microcornea, megalolenticono posteriore, persistenza del sistema vascolare fetale e coloboma | Sindrome MPCC |
| nl | Microcornea - posterieure megalolenticonus - persisterende foetale vasculatuur - coloboom-syndroom | MPPC-syndroom |
| pt | Microcórnea - megalolenticonus posterior - vasculatura fetal persistente - coloboma | |
| pl | Mała rogówka - przedni stożek soczewki olbrzymiej - przetrwałe unaczynienie płodowe - szczelina błony naczyniowej i siatkówki | Zespół MPPC |
| cs | Syndrom zahrnující mikrokorneu, posteriorní megalolentikonus, perzistentní fetální vaskulaturu a kolobom | MPPC syndrom |
| uk | Синдром мікрокорнеа- заднього мегалолентиконусу-персистуючої судинної системи плода-колобоми | Синдром MPPC |
| zh | 小角膜-后巨大圆锥晶状体-持续性胎儿血管-眼缺损综合征 | MPPC综合征 |
| tr | Mikrokornea-posterior megalolentikonus-persistan fetal vaskülatür-koloboma sendromu | MPPC sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | LA10.Y | NTBT | attributed | validated |
| MONDO | 0016509 | E | validated | |
| UMLS | C4751163 | E | validated | |
| GARD | 10938 | 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:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 20417569[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20417569[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000482 | Microcornea | |
| HP:0011502 | Posterior lenticonus | |
| HP:0007968 | Remnants of the hyaloid vascular system | |
| Frequent (79-30%) | ||
| HP:0000612 | Iris coloboma | |
| HP:0000556 | Retinal dystrophy | |
| Occasional (29-5%) | ||
| HP:0000568 | Microphthalmia | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231736
- This record as JSON: /data/d/231736.json