Calvarial doughnut lesions-bone fragility syndrome
Synonyms: Familial doughnut lesions of skull
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Calvarial doughnut lesions-bone fragility syndrome | Familial doughnut lesions of skull |
| fr | Syndrome de lésions en anneau de la voûte crânienne-fragilité osseuse | Lésions familiales en anneau du crâne |
| de | Doughnut-förmige Läsionen der Schädelkalotte-Knochenfragilität-Syndrom | |
| es | Síndrome de lesiones en anillo del cuero cabelludo-fragilidad ósea | Lesiones en anillo del cráneo-fragilidad de los huesos |
| it | Sindrome lesioni ad anello della volta cranica-fragilità ossea | Lesioni ad anello del cranio, forma familiare |
| nl | Donutlaesies van calvaria - botfragiliteit-syndroom | Donutlaesies van schedeldak - botfragiliteit-syndroom · Familiale donutlaesies van schedel |
| pt | Lesões do calvário em forma de donut - fragilidade óssea | |
| pl | Ubytki w sklepieniu czaszki typu "doughnut" - kruchość kości | Rodzinne ubytki w czaszce typu "dougnut |
| cs | Syndrom zahrnující léze na lebce tvaru koblih a křehkost kostí | Familiární léze lebky tvaru koblih |
| uk | Ураження Calvarial Doughnut- синдром ламкості кісток | Сімейні пончикові ураження черепа |
| zh | 颅骨环形损伤-骨脆性增加综合征 | 家族性颅骨环形损伤 |
| tr | Kalvariyal donut lezyonları-kemik kırılganlık sendromu | Kafatasının ailesel halka lezyonları |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 126550 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0007470 | E | validated | |
| MeSH | C565089 | E | validated | |
| UMLS | C1852022 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85192
- This record as JSON: /data/d/85192.json