Tricho-retino-dento-digital syndrome
historical
Synonyms: Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tricho-retino-dento-digital syndrome | Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome |
| fr | Syndrome tricho-rétino-dento-digital | Syndrome de Bork · Syndrome des cheveux incoiffables-dystrophie pigmentaire de la rétine-anomalies dentaires-brachydactylie |
| de | Tricho-retino-dento-digitales Syndrom | Bork-Syndrom · Unkämmbare Haare - retinale Pigmentdystrophie - Zahnanomalien - Brachydaktylie |
| es | Síndrome trico-retino-dento-digital | Cabello impeinable-distrofia pigmentaria retiniana-anomalías dentales-braquidactilia · Síndrome de Bork |
| it | Sindrome trico-retinico-dento-digitale | Capelli impettinabili - distrofia retinica pigmentosa - anomalie dentali - brachidattilia · Sindrome di Bork |
| nl | Tricho-retino-dento-digitaal syndroom | Onkambaar haar - retinale pigmentdystrofie - tandanomalieën - brachydactylie-syndroom · Syndroom van Bork |
| pt | Síndrome trico-retino-dento-digital | Síndrome Bork · Síndrome de cabelo impenteável-distrofia pigmentosa da retina-anomalias dentárias-braquidactilia |
| pl | Zespół włosowo-siatkówkowo-zębowo-palcowy | Niedające się uczesać włosy - dystrofia barwnikowa siatkówki - wady zębów - brachydaktylia · Zespół Bork |
| cs | Trichoretinodentodigitální syndrom | Borkův syndrom · Syndrom zahrnující neučesatelné vlasy, retinální pigmentální dystrofii, dentální anomálie a brachydaktylii |
| uk | Трихо-ретино-денто-дігітальний синдром | Синдром Борка · Синдром нерозчисуваного волосся-пігментної дистрофії сітківки-зубних аномалій - брахідактилії |
| zh | 毛发-视网膜-牙-指综合征 | 难梳发-视网膜色素营养不良-牙齿异常-短指综合征 |
| tr | Triko-retino-dento-dijital sendromu | Bork sendromu · Aşılamayan saç-retina pigmenter distrofi-diş anomalileri-brakidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191482 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008622 | E | validated | |
| MeSH | C536576 | E | validated | |
| UMLS | C1860605 | E | validated | |
| GARD | 938 | 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 (4):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 8279493[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8279493[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001156 | Brachydactyly | |
| HP:0001118 | Juvenile cataract | |
| HP:0008070 | Sparse hair | |
| HP:0030056 | Uncombable hair | |
| Frequent (79-30%) | ||
| HP:0001155 | Abnormality of the hand | |
| HP:0000677 | Oligodontia | |
| HP:0011069 | Supernumerary tooth | |
| Occasional (29-5%) | ||
| HP:0010047 | Short 5th metacarpal | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1264
- This record as JSON: /data/d/1264.json