Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Torticollis-keloids-cryptorchidism-renal dysplasia syndrome | |
| fr | Syndrome de torticolis-chéloïdes-cryptorchidie | |
| de | Torticollis-Keloide-Kryptoorchidie-Nierendysplasie-Syndrom | Torticollis - Keloid - Kryptoorchidie - Nierendysplasie |
| es | Síndrome de tortícolis-queloides-criptorquidia-displasia renal | |
| it | Sindrome da torcicollo, cheliodi, criptorchidismo e displasia renale | |
| nl | Torticollis - keloïden - cryptorchidie - renale dysplasie-syndroom | |
| pt | Síndrome de torcicolo-quelóides-criptorquidia-displasia renal | |
| pl | Zespół kręczu szyi, bliznowców, wnętrostwa i dysplazji nerek | |
| cs | Syndrom zahrnující torticollis, keloidy, kryptorchismus a renální dysplázii | |
| uk | Синдром кривошиї - келоїдів - крипторхізму - дисплазії нирок | |
| zh | 斜颈-瘢痕疙瘩-隐睾-肾发育不良综合征 | |
| tr | Tortikolis-keloidler-kriptorşidizm-renal displazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 314300 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010748 | E | validated | |
| MeSH | C536970 | E | validated | |
| UMLS | C4749808 | E | validated | |
| GARD | 5230 | 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:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital 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 | 7 cases | Worldwide | Case(s) | Validated | 12725596[PMID]_4387470[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12725596[PMID]_4387470[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/3341
- This record as JSON: /data/d/3341.json