ORPHA:2741
Ophthalmomandibulomelic dysplasia
Synonyms: OMM syndrome · Pillay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- No data available
- Status
- active
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ophthalmomandibulomelic dysplasia | OMM syndrome · Pillay syndrome |
| fr | Dysplasie ophtalmo-mandibulo-mélique | Syndrome OMM · Syndrome de Pillay |
| de | Ophthalmo-mandibulo-mele Dysplasie | OMM-Syndrom · Pillay-Syndrom |
| es | Displasia oftalmo-mandíbulo-mélica | |
| it | Displasia oftalmo-mandibolo-melica | Sindrome OMM · Sindrome di Pillay |
| nl | Oftalmomandibulomele dysplasie | OMM-syndroom · Syndroom van Pillay |
| pt | Displasia oftalmo-mandibulo-mélica | Síndrome Pillay |
| pl | Dysplazja oczno-żuchwowo-kończynowa | Zespół OMM · Zespół Pillay'a |
| cs | Oftalmomandibulomelická dysplázie | OMM syndrom · Pillayův syndrom |
| uk | Офтальмомандибуломелічна дисплазія | Синдром ОММ · Синдром Піллай |
| zh | 眼下颌支发育不良 | Pillay综合征 |
| tr | Oftalmomandibulomelik displazi | OMM sendromu · Pillay sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164900 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0008127 | E | validated | |
| MeSH | C563501 | E | validated | |
| UMLS | C1833872 | E | validated | |
| GARD | 4365 | 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:98628Syndromic corneal dystrophy
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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 14161103[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14161103[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004348 | Abnormality of bone mineral density | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0000618 | Blindness | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0007957 | Corneal opacity | |
| HP:0003042 | Elbow dislocation | |
| HP:0006441 | Lateral humeral condyle aplasia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0003027 | Mesomelia | |
| HP:0002983 | Micromelia | |
| HP:0005446 | Obtuse angle of mandible | |
| HP:0006439 | Radioulnar dislocation | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0012478 | Temporomandibular joint ankylosis | |
| HP:0006055 | Ulnar deviated club hands | |
| Occasional (29-5%) | ||
| HP:0000501 | Glaucoma | |
| HP:0000485 | Megalocornea | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2741
- This record as JSON: /data/d/2741.json