Nephropathy - deafness - hyperparathyroidism syndrome
Nephropathy - deafness - hyperparathyroidism syndrome
Definition
Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.
Also known as Edwards-Patton-Dilly syndrome — per MONDO