Nephropathy-deafness-hyperparathyroidism syndrome
ORPHA:2668· ICD-10 Q87.8
Definition
A rare syndromic deafness characterized by renal failure without hematuria, hyperparathyroidism due to parathyroid hyperplasia and sensorineural deafness. There have been no further descriptions in the literature since 1989.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood