ORPHA:1513
Craniodiaphyseal dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Childhood
- Status
- active
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniodiaphyseal dysplasia | |
| fr | Dysplasie cranio-diaphysaire | |
| de | Dysplasie, kraniodiaphysäre | |
| es | Displasia craneodiafisaria | |
| it | Displasia craniodiafisaria | |
| nl | Craniodiafysaire dysplasie | |
| pt | Displasia cranio-diafisária | |
| pl | Dysplazja czaszkowo-trzonowa | |
| cs | Kraniodiafyzární dysplázie | |
| uk | Краніодіафізарна дисплазія | |
| zh | 颅骨骨干发育异常 | |
| tr | Kraniyodiyafizer displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122860 | E | validated | |
| OMIM | 218300 | BTNT | validated | |
| ICD-10 | M85.2 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0009031 | E | validated | |
| MeSH | C562940 | E | validated | |
| UMLS | C0410539 | E | validated | |
| GARD | 1567 | 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:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOST | Disease-causing germline mutation(s) in | Assessed | HGNC:13771 | ENSG00000167941 | 605740 | 17q21.31 | sclerostin | 21221996[PMID] |
| SP7 | Disease-causing germline mutation(s) in | Assessed | HGNC:17321 | ENSG00000170374 | 606633 | 12q13.13 | Sp7 transcription factor | 36436818[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 21221996[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0000280 | Coarse facial features | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0002007 | Frontal bossing | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000405 | Conductive hearing impairment | |
| HP:0000402 | Stenosis of the external auditory canal | |
| Occasional (29-5%) | ||
| HP:0000648 | Optic atrophy | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1513
- This record as JSON: /data/d/1513.json