Torticollis-keloids-cryptorchidism-renal dysplasia syndrome

Orpha code: 3341OMIM code: 314300

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.

Disease data
Classification

Malformation syndrome

ORPHA code
3341
OMIM code
314300
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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