torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Findings
No curated finding names torticollis-keloids-cryptorchidism-renal dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010748), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: torticollis-keloids-cryptorchidism-renal dysplasia syndrome
- Also called
- Goeminne TKCR syndrome