ORPHA:79133
Focal facial dermal dysplasia type I
Synonyms: Bitemporal aplasia cutis congenita · Brauer syndrome · FFDD type I · FFDD1 · Focal facial dermal dysplasia 1, Brauer type · Focal facial dermal dysplasia type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal facial dermal dysplasia type I | Bitemporal aplasia cutis congenita · Brauer syndrome · FFDD type I · FFDD1 · Focal facial dermal dysplasia 1, Brauer type · Focal facial dermal dysplasia type 1 |
| fr | Dysplasie dermique faciale focale type I | Aplasie cutanée bitemporale congénitale · Dysplasie dermique faciale focale 1, type Brauer · FFDD type I · FFDD1 · Naevus aplasiques symétriques héréditaires des tempes · Syndrome de Brauer |
| de | Dysplasie, dermale faziale fokale, Typ I | Aplasia cutis congenita, bitemporale · Brauer-Syndrom · FFDD Typ I · FFDD1 · Fokale faziale dermale Dysplasie 1 vom Typ Brauer |
| es | Displasia dérmica focal facial tipo I | Aplasia cutis bitemporal congénita · Displasia dérmica facial focal tipo Brauer · Displasia dérmica focal facial 1 tipo Brauer · Displasia dérmica focal facial tipo 1 · FFDD tipo I · FFDD1 · Síndrome de Brauer |
| it | Displasia facciale focale del derma, tipo I | Aplasia cutanea congenita bitemporale · Displasia facciale focale del derma 1, tipo Brauer · Displasia facciale focale del derma, tipo 1 · FFDD, tipo I · FFDD1 · Sindrome di Brauer |
| nl | Focale faciale dermale dysplasie type I | Bitemporale aplasia cutis congenita · Brauersyndroom · FFDD type I · FFDD1 · Focale faciale dermale dysplasie 1, Brauer-type · Focale faciale dermale dysplasie type 1 |
| pt | Displasia dérmica focal facial tipo I | Displasia dérmica facial focal 1, tipo Brauer · Displasia dérmica facial focal tipo 1 · FFDD tipo I · FFDD1 |
| pl | Ogniskowa dysplazja skórna twarzy typu I | FFDD typu I · FFDD1 · Ogniskowa dysplazja skórna twarzy 1, typ Brauera · Ogniskowa dysplazja skórna twarzy typu 1 · Wrodzona dwuskroniowa aplazja skóry · Zespół Brauera |
| cs | Fokální faciální dermální dysplázie, typ I | FFDD typ I · FFDD1 · Fokální faciální dermální dysplázie, typ 1 · Vrozená bitemporální aplázie kůže · Brauerův syndrom · Fokální faciální dermální dysplázie, Brauerův typ |
| uk | Фокальна дермальна дисплазія обиччя, тип І | Вроджена бітемпоральна аплазія кукси · Синдром Брауера · FFDD тип I · FFDD1 · Фокальна дисплазія шкіри обличчя 1, тип Брауера · Фокальна дисплазія шкіри обличчя, тип 1 |
| zh | 局灶性面部皮肤发育不良I型 | 局灶性面部皮肤发育不良，1型brauer型 |
| tr | Fokal yüz dermal displazisitip I | FFDD1 · FFDD tip I · Brauer sendromu · Bitemporal aplazi kutis konjenita · Fokal fasiyal dermal displazi tip 1 · Fokal fasiyal dermal displazi 1, Brauer tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136500 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | attributed | validated |
| MONDO | 0007627 | E | validated | |
| UMLS | C5235196 | 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 | 81 cases | Worldwide | Case(s) | Validated | 21931173[PMID] | |
| 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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000561 | Absent eyelashes | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0001075 | Atrophic scars | |
| HP:0009743 | Distichiasis | |
| HP:0000294 | Low anterior hairline | |
| HP:0010781 | Skin dimple | |
| HP:0008070 | Sparse hair | |
| HP:0005585 | Spotty hyperpigmentation | |
| HP:0005590 | Spotty hypopigmentation | |
| HP:0011221 | Vertical forehead creases | |
| Frequent (79-30%) | ||
| HP:0000414 | Bulbous nose | |
| HP:0000437 | Depressed nasal tip | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000307 | Pointed chin | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0000215 | Thick upper lip vermilion | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79133
- This record as JSON: /data/d/79133.json