ORPHA:113
Bazex-Dupré-Christol syndrome
Synonyms: BDCS · Follicular atrophoderma and basal cell carcinomas
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bazex-Dupré-Christol syndrome | BDCS · Follicular atrophoderma and basal cell carcinomas |
| fr | Syndrome de Bazex-Dupré-Christol | Atrophodermie folliculaire et carcinomes basocellulaires · BDCS |
| de | Bazex-Dupré-Christol-Syndrom | Atrophodermie, follikuläre - Basaliome · BDCS |
| es | Síndrome de Bazex-Dupré-Christol | Atrofodermia folicular y carcinomas de células basales · BDCS |
| it | Sindrome di Bazex-Dupré-Christol | Atrofodermia follicolare e carcinomi basocellulari · BDCS |
| nl | Syndroom van Bazex-Dupré-Christol | BDCS · Folliculaire atrofodermie en basaalcelcarcinomen |
| pt | Síndrome Bazex-Dupre-Christol | Síndrome Bazex |
| pl | Zespół Bazex, Dupré i Christol | Atrofodermia i rak podstawnokomórkowy · BDCS |
| cs | Folikulární atrophoderma a bazocelulární karcinom | BDCS · Folikulární atrophoderma a bazaliom · Folikulární atrophoderma a karcinom bazálních buněk · Bazexův-Dupréův-Christolův syndrom · Bazex-Dupré-Christolův syndrom |
| uk | Синдром Базекса-Дюпре-Крістоля | BDCS · Фолікулярна атрофодермія та базальноклітинні карциноми |
| zh | Bazex-DuprÚ-Christol综合征 | 毛囊性皮肤萎缩和基底细胞上皮癌 |
| tr | Bazex-Dupré-Christol sendromu | BDCS · Foliküler atrofoderma ve bazal hücreli karsinomlar |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301845 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.5 | NTBT | index | validated |
| MONDO | 0010535 | E | validated | |
| MeSH | C537663 | E | validated | |
| UMLS | C0346104 | E | validated | |
| GARD | 838 | 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:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:79458Oley syndrome moved to · inactive
- ORPHA:79459OBSOLETE: Follicular atrophoderma-basal cell carcinoma referred to · inactive
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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 | 143 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.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002208 | Coarse hair | |
| Frequent (79-30%) | ||
| HP:0002671 | Basal cell carcinoma | |
| HP:0001056 | Milia | |
| HP:0003777 | Pili torti | |
| HP:0045075 | Sparse eyebrow | |
| HP:0008070 | Sparse hair | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0009886 | Trichorrhexis nodosa | |
| Occasional (29-5%) | ||
| HP:0001167 | Abnormality of finger | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0100777 | Exostoses | |
| HP:0100720 | Hypoplasia of the ear cartilage | |
| HP:0000400 | Macrotia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 10804303[PMID]_21428980[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/113
- This record as JSON: /data/d/113.json