Torticollis-keloids-cryptorchidism-renal dysplasia syndrome

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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