ORPHA:2097
Grant syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Grant syndrome | |
| fr | Syndrome de Grant | |
| de | Grant-Syndrom | |
| es | Síndrome de Grant | |
| it | Sindrome di Grant | |
| nl | Syndroom van Grant | |
| pt | Síndrome Grant | |
| pl | Zespół Granta | |
| cs | Grantův syndrom | |
| uk | Синдром Гранта | |
| zh | Grant综合征 | |
| tr | Grant sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 138930 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0007683 | E | validated | |
| MeSH | C537293 | E | validated | |
| UMLS | C1841835 | E | validated | |
| GARD | 2559 | 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:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:519296Rare disorder with pigmented sclera
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 | 1 families | Worldwide | Family(ies) | Validated | 3742858[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3742858[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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000592 | Blue sclerae | |
| HP:0006487 | Bowing of the long bones | |
| HP:0004331 | Decreased skull ossification | |
| HP:0002007 | Frontal bossing | |
| HP:0001373 | Joint dislocation | |
| HP:0001382 | Joint hypermobility | |
| HP:0000239 | Large fontanelles | |
| HP:0000347 | Micrognathia | |
| HP:0002645 | Wormian bones | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0011912 | Abnormality of the glenoid fossa | |
| HP:0000248 | Brachycephaly | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000324 | Facial asymmetry | |
| HP:0012368 | Flat face | |
| HP:0001252 | Hypotonia | |
| HP:0100729 | Large face | |
| HP:0000774 | Narrow chest | |
| HP:0010807 | Open bite | |
| HP:0004322 | Short stature | |
| HP:0001024 | Skin dimple over apex of long bone angulation | |
| HP:0000912 | Sprengel anomaly | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2097
- This record as JSON: /data/d/2097.json