Disease & disorder

torticollis-keloids-cryptorchidism-renal dysplasia syndrome

MONDO:0010748

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.

Outbreak surveillance

Global reported events

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Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms4
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Background context

torticollis-keloids-cryptorchidism-renal dysplasia syndrome

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.