Focal facial dermal dysplasia type III
Synonyms: FFDD type III · FFDD3 · Focal facial dermal dysplasia 3, Setleis type · Setleis syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal facial dermal dysplasia type III | FFDD type III · FFDD3 · Focal facial dermal dysplasia 3, Setleis type · Setleis syndrome |
| fr | Dysplasie dermique faciale focale type III | Dysplasie dermique faciale focale 3, type Setleis · FFDD type III · FFDD3 · Syndrome de Setleis |
| de | Dysplasie, dermale faziale fokale, Typ III | FFDD Typ III · FFDD3 · Fokale faziale dermale Dysplasie 3 Typ Setleis · Setleis-Syndrom |
| es | Displasia dérmica focal facial tipo III | Displasia dérmica facial focal 3 tipo Setleis · Displasia dérmica focal facial 3 tipo Setleis · FFDD tipo III · FFDD3 · Síndrome de Setleis |
| it | Displasia dermica facciale focale, tipo III | Displasia dermica facciale focale 3, tipo Setleis · FFDD, tipo III · FFDD3 · Sindrome di Setleis |
| nl | Focale faciale dermale dysplasie type III | FFDD type III · FFDD3 · Focale faciale dermale dysplasie 3, Setleis-type · Setleissyndroom |
| pt | Displasia dérmica focal facial tipo III | Displasia dérmica facial focal 3, tipo Setleis · FFDD tipo III · FFDD3 · Síndrome Setleis |
| pl | Ogniskowa dysplazja skóry twarzy typu III | FFDD type III · FFDD3 · Ogniskowa dysplazja skóry twarzy 3, typ Setleisa · Zespół Setleisa |
| cs | Fokální faciální dermální dysplázie, typ III | FFDD typ III · FFDD3 · Fokální faciální dermální dysplázie 3, Setleisův typ · Setleisův syndrom |
| uk | Фокапльна дисплазія шкіри обличчя, тип III | FFDD тип III · FFDD3 · Фокальна дисплазія дерми обличчя 3, тип Сетлейса · Синдром Сетлейса |
| zh | 局灶性面部皮肤发育不良III型 | 局灶性面部皮肤发育不良III型，Setleits型 |
| tr | Fokal yüz dermal displazi tip III | FFDD3 · FFDD tip III · Setleis sendromu · Fokal fasiyal dermal displazi 3, Setleis tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227260 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | attributed | validated |
| MONDO | 0009203 | E | validated | |
| MeSH | C536385 | E | validated | |
| UMLS | C1744559 | E | validated | |
| GARD | 121 | 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:398166Focal facial dermal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TWIST2 | 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 |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0100781 | Abnormality of the sacroiliac joint | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0010751 | Chin dimple | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0001582 | Redundant skin | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0002023 | Anal atresia | |
| HP:0009743 | Distichiasis | |
| HP:0000286 | Epicanthus | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000322 | Short philtrum | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0007776 | Sparse lower eyelashes | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0000486 | Strabismus | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1807
- This record as JSON: /data/d/1807.json