ORPHA:85168
Craniofacial conodysplasia
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- historical
Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniofacial conodysplasia | |
| fr | Conodysplasie craniofaciale | |
| de | Kraniofaziale Konodysplasie | |
| es | Conodisplasia craneofacial | |
| it | Displasia craniofacciale - epifisi a cono | |
| nl | Craniofaciale conodysplasie | |
| pt | Conodisplasia craniofacial | |
| pl | Dysplazja stożkowa czaszkowo-twarzowa | |
| cs | Kraniofaciální konodysplázie | |
| uk | Черепно-лицьова конодисплазія | |
| zh | 颅面骨锥状发育不良 | |
| tr | Kraniyofasiyal konodisplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | attributed | validated |
| MONDO | 0019406 | E | validated | |
| UMLS | C4303862 | 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 (1):
- ORPHA:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 7593576[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7593576[PMID] |
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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | |
| HP:0004439 | Craniofacial dysostosis | |
| HP:0000238 | Hydrocephalus | |
| HP:0002176 | Spinal cord compression | |
Annotation source: 7593576[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85168
- This record as JSON: /data/d/85168.json