ORPHA:1531
Craniosynostosis
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable, Unknown, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis | |
| fr | Craniosynostose | |
| de | Kraniosynostose | |
| es | Craneosinostosis | |
| it | Craniosinostosi | |
| nl | Craniosynostose | |
| pt | Craniossinostose | |
| pl | Kraniosynostoza | |
| cs | Kraniosynostóza | |
| uk | Краніосиностоз | |
| zh | 颅缝早闭 | |
| tr | Kraniyosinostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.0 | E | specific | validated |
| ICD-11 | LB70.0 | E | specific | validated |
| MONDO | 0015469 | E | validated | |
| MONDO | 15469 | E | validated | |
| MeSH | D003398 | E | validated | |
| UMLS | C0010278 | E | validated | |
| GARD | 6209 | E | validated | |
| MedDRA | 10049889 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98038Cranial malformation
rare developmental anomalies during embryogenesis - ORPHA:364559Dysostosis
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404568Dysostosis of genetic origin
rare genetic diseases - ORPHA:183542Genetic cranial malformation
rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 24.3 / 100 000 | Europe | Value and class | Not yet validated | EUROCAT European surveillance of congenital anomalies 2012[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 47.6 / 100 000 | France | Value and class | Validated | 7762595[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 49.4 / 100 000 | Australia | Value and class | Validated | 34626670[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 43 / 100 000 | United States | Value and class | Validated | 18344207[PMID] |
| Point prevalence | Unknown | — | Worldwide | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1531
- This record as JSON: /data/d/1531.json