ORPHA:1522
Craniometaphyseal dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniometaphyseal dysplasia | |
| fr | Dysplasie cranio-métaphysaire | |
| de | Dysplasie, kranio-metaphysäre | |
| es | Displasia craneometafisaria | |
| it | Displasia craniometafisaria | |
| nl | Craniometafysaire dysplasie | |
| pt | Displasia cranio-metafisária | CMD |
| pl | Dysplazja czaszkowo-przynasadowa | |
| cs | Kraniometafyzární dysplázie | |
| uk | Краніометафізарна дисплазія | |
| zh | 颅骨干骺端发育不全症 | |
| tr | Kraniyometafizyal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123000 | BTNT | validated | |
| OMIM | 218400 | BTNT | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0015465 | E | validated | |
| UMLS | C0265292 | 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 |
|---|---|---|---|---|---|---|---|---|
| ANKH | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:15492 | ENSG00000154122 | 605145 | 5p15.2 | ANKH inorganic pyrophosphate transport regulator | 21438135[PMID]_11326338[PMID]_11326272[PMID] |
| GJA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4274 | ENSG00000152661 | 121014 | 6q22.31 | gap junction protein alpha 1 | 23951358[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 160 cases | Worldwide | Case(s) | Validated | ISBN:781730635[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ISBN:0781730635[OTHER] |
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:0000944 | Abnormal metaphysis morphology | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000316 | Hypertelorism | |
| HP:0011002 | Osteopetrosis | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0002652 | Skeletal dysplasia | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0010628 | Facial palsy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000505 | Visual impairment | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1522
- This record as JSON: /data/d/1522.json