ORPHA:398189
Focal facial dermal dysplasia type IV
Synonyms: FFDD type IV · FFDD4 · Focal facial dermal dysplasia 4 · Focal facial preauricular dysplasia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal facial dermal dysplasia type IV | FFDD type IV · FFDD4 · Focal facial dermal dysplasia 4 · Focal facial preauricular dysplasia |
| fr | Dysplasie dermique faciale focale type IV | Dysplasie dermique faciale focale 4 · Dysplasie faciale focale préauriculaire · FFDD type IV · FFDD4 |
| de | Fokale faziale dermale Dysplasie Typ IV | FFDD Typ IV · FFDD4 · Fokale faziale dermale Dysplasie 4 · Fokale faziale präaurikuläre Dysplasie |
| es | Displasia dérmica focal facial tipo IV | Displasia dérmica focal facial 4 · Displasia focal facial preauricular · FFDD tipo IV · FFDD4 |
| it | Displasia dermica facciale focale, tipo IV | Displasia dermica facciale focale 4 · Displasia facciale focale preauricolare · FFDD, tipo IV · FFDD4 |
| nl | Focale faciale dermale dysplasie type IV | FFDD type IV · FFDD4 · Focale faciale dermale dysplasie 4 · Focale faciale pre-auriculaire dysplasie |
| pt | Displasia dérmica facial focal tipo IV | Displasia dérmica facial focal tipo 4 · Displasia facial focal preauricular · FFDD tipo IV · FFDD4 |
| pl | Ogniskowa dysplazja skóry twarzy typu IV | FFDD typu IV · FFDD4 · Ogniskowa dysplazja skóry twarzy 4 · Ogniskowa przeduszna dysplazja skóry twarzy |
| cs | Fokální faciální dermální dysplázie, typ IV | FFDD typ IV · FFDD4 · Fokální faciální dermální dysplázie, typ 4 · Fokální faciální preaurikulární dysplázie |
| uk | Фокальна дисплазія шкіри обличчя, тип IV | FFDD тип IV · FFDD4 · Фокальна дисплазія шкіри обличчя 4 · Фокальна лицьова преаурикулярна дисплазія |
| zh | 局灶性面部皮肤发育异常4型 | 局灶性面部耳前真皮发育不良 |
| tr | Fokal yüz dermal displazi tip IV | FFDD4 · FFDD tip IV · Fokal fasiyal dermal displazi 4 · Fokal fasiyal preoriküler displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614974 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | attributed | validated |
| MONDO | 0013997 | E | validated | |
| UMLS | C3554246 | 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:398166Focal facial dermal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP26C1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20577 | ENSG00000187553 | 608428 | 10q23.33 | cytochrome P450 family 26 subfamily C member 1 | 23161670[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 23161670[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23161670[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
17 annotations · validated 2017-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:3000019 | Abnormality of buccal mucosa | |
| HP:0004426 | Abnormality of the cheek | |
| Frequent (79-30%) | ||
| HP:0100494 | Abnormal mast cell morphology | |
| HP:0011124 | Abnormality of epidermal morphology | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0007359 | Focal-onset seizure | |
| HP:0025167 | Fragmented elastic fibers in the dermis | |
| HP:0001028 | Hemangioma | |
| HP:0001269 | Hemiparesis | |
| HP:0000238 | Hydrocephalus | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0000252 | Microcephaly | |
| HP:0003764 | Nevus | |
| HP:0100699 | Scarring | |
| HP:0000331 | Short chin | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 16530710[PMID]_23161670[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/398189
- This record as JSON: /data/d/398189.json