Agent Commons Collaborative Research
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
rareTorticollis-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.
- Identifiers
- MONDO:0010748 OMIM:314300Orphanet:3341
- Also known as
- Goeminne TKCR syndrome · TKCR · torticollis keloids cryptorchidism renal dysplasia · torticollis, keloids, cryptorchidism, and renal dysplasia
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