Focal facial dermal dysplasia
Synonyms: FFDD
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal facial dermal dysplasia | FFDD |
| fr | Dysplasie dermique faciale focale | = en |
| de | Fokale faziale dermale Dysplasie | = en |
| es | Displasia dérmica facial focal | = en |
| it | Displasia dermica facciale focale | = en |
| nl | Focale faciale dermale dysplasie | = en |
| pt | Displasia dérmica facial focal | = en |
| pl | Ogniskowa dysplazja skóry twarzy | = en |
| cs | Fokální faciální dermální dysplázie | = en |
| uk | Фокальна дисплазія шкіри обличчя | = en |
| zh | 局灶性面部皮肤发育异常 | = en |
| tr | Fokal yüz dermal displazisi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136500 | BTNT | validated | |
| OMIM | 227260 | BTNT | validated | |
| OMIM | 614973 | BTNT | validated | |
| OMIM | 614974 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0018363 | E | validated | |
| MeSH | D000090303 | E | validated | |
| UMLS | C2936827 | E | validated | |
| GARD | 8416 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CYP26C1 | ORPHA:398189Focal facial dermal dysplasia type IV | 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] |
| TWIST2 | ORPHA:1807Focal facial dermal dysplasia type III | Disease-causing germline mutation(s) in | Assessed | HGNC:20670 | ENSG00000233608 | 607556 | 2q37.3 | twist family bHLH transcription factor 2 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 147 cases | Worldwide | Case(s) | Validated | 21931173[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21931173[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/398166
- This record as JSON: /data/d/398166.json