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Синдром кривошиї - келоїдів - крипторхізму - дисплазії нирок

ORPHA:3341· ICD-10 Q87.8· Torticollis-keloids-cryptorchidism-renal dysplasia syndrome

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
X-linked dominant
Вік початку
Infancy, Neonatal