torticollis-keloids-cryptorchidism-renal dysplasia syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
Goeminne TKCR syndrome
exact
TKCR
related
torticollis keloids cryptorchidism renal dysplasia
related
torticollis, keloids, cryptorchidism, and renal dysplasia
related