Синдром Дальберга-Борера-Ньюкомера
ORPHA:1563· ICD-10 Q87.8· Dahlberg-Borer-Newcomer syndrome
Визначення(English summary)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. There have been no further descriptions in the literature since 1993.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive, X-linked recessive
- Вік початку
- Childhood