ORPHA:398173
Focal facial dermal dysplasia type II
Synonyms: FFDD type II · FFDD2 · Focal facial dermal dysplasia 2, Brauer-Setleis type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal facial dermal dysplasia type II | FFDD type II · FFDD2 · Focal facial dermal dysplasia 2, Brauer-Setleis type |
| fr | Dysplasie dermique faciale focale type II | Dysplasie dermique faciale focale 2, type Braun-Setleis · FFDD type II · FFDD2 |
| de | Fokale faziale dermale Dysplasie Typ II | FFDD Typ II · FFDD2 · Fokale faziale dermale Dysplasie 2, Typ Brauer-Setleis |
| es | Displasia dérmica focal facial tipo II | Displasia dérmica facial focal 2, tipo Brauer-Setleis · Displasia dérmica focal facial 2 tipo Brauer-Setleis · FFDD tipo II · FFDD2 |
| it | Displasia dermica facciale focale, tipo II | Displasia dermica facciale focale 2, tipo Brauer-Setleis · FFDD, tipo II · FFDD2 |
| nl | Focale faciale dermale dysplasie type II | FFDD type II · FFDD2 · Focale faciale dermale dysplasie 2, Brauer-Setleis-type |
| pt | Displasia dérmica facial focal tipo II | Displasia dérmica facial focal 2, tipo Brauer-Setleis · Displasia dérmica facial focal tipo 2 · FFDD tipo II · FFDD2 |
| pl | Ogniskowa dysplazja skóry twarzy typu II | FFDD typu II · FFDD2 · Ogniskowa dysplazja skóry twarzy 2, typ Brauera i Setleisa |
| cs | Fokální faciální dermální dysplázie, typ II | FFDD typ II · FFDD2 · Fokální faciální dermální dysplázie 2, Brauerův-Setleisův typ · Fokální faciální dermální dysplázie 2, Brauer-Setleisův typ |
| uk | Фокальна дисплазія шкіри обличчя, тип II | FFDD тип II · FFDD2 · Фокальна дисплазія шкіри обличчя 2, тип Брауера-Сетлейса |
| zh | 局灶性面部皮肤发育异常2型 | 局灶性面部真皮发育异常2型Brauer-Setleis type型 |
| tr | Fokal yüz dermal displazi tip II | FFDD2 · FFDD tip II · Fokal fasiyal dermal displazi 2, Brauer-Setleis tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614973 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | attributed | validated |
| MONDO | 0013996 | E | validated | |
| UMLS | C3554245 | 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
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 | 22 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.
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HPO phenotypes
13 annotations · validated 2017-03-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011336 | Bitemporal forceps marks | Diagnostic criterion |
| HP:0002055 | Curved linear dimple below the lower lip | Diagnostic criterion |
| HP:0009743 | Distichiasis | Diagnostic criterion |
| HP:0000369 | Low-set ears | |
| HP:0045075 | Sparse eyebrow | Diagnostic criterion |
| HP:0001128 | Trichiasis | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0007651 | Ectropion of lower eyelids | |
| HP:0004554 | Generalized hypertrichosis | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0000385 | Small earlobe | |
| Occasional (29-5%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000387 | Absent earlobe | |
| HP:0000394 | Lop ear | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 19291768[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/398173
- This record as JSON: /data/d/398173.json