ORPHA:2763
Osteocraniostenosis
Synonyms: Gracile bone dysplasia · Osteocraniosplenic syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteocraniostenosis | Gracile bone dysplasia · Osteocraniosplenic syndrome |
| fr | Ostéocraniosténose | Syndrome des os graciles · Syndrome ostéocraniosplénique |
| de | Osteokraniostenose | Grazile-Knochen-Dysplasie · Osteokraniosplenisches Syndrom |
| es | Osteocraneoestenosis | Displasia con huesos gráciles · Síndrome osteo-cráneo-esplénico |
| it | Osteocraniostenosi | Displasia con ossa gracili · Sindrome osteo-cranio-splenica |
| nl | Osteocraniostenose | Dysplasie met dunne botten · Osteocraniosplenisch syndroom |
| pt | Osteocranioestenose | |
| pl | Osteokraniostenoza | Dysplazja wiotkich kości · Zespół kostno-czaszkowo-śledzionowy |
| cs | Osteokraniostenóza | Dysplázie gracilních kostí · Osteokraniosplenický syndrom |
| uk | Остеокраніостеноз | Грацильна дисплазія кісток · Остеокраніоспленічний синдром |
| zh | 狭颅症 | 骨颅脾综合征 |
| tr | Osteokraniostenoz | Grasil kemik displazisi · Osteokraniyosplenik sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602361 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | index | validated |
| MONDO | 0011215 | E | validated | |
| MeSH | C537291 | E | validated | |
| UMLS | C1865639 | E | validated | |
| GARD | 3396 | 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 (3):
- ORPHA:98038Cranial malformation
rare developmental anomalies during embryogenesis - ORPHA:183542Genetic cranial malformation
rare genetic diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FAM111A | Disease-causing germline mutation(s) in | Assessed | HGNC:24725 | ENSG00000166801 | 615292 | 11q12.1 | FAM111 trypsin like peptidase A | 23684011[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 12210352[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/2763
- This record as JSON: /data/d/2763.json