Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is an extremely rare congenital disorder. Clinical features of the disease include steroid-resistant nephrosis with progressive renal failure and death at early infancy. Autopsy in some patients revealed a fibrotic parathyroid gland and thickened glomerular basement membranes. However, different etiologies are described for the syndrome but the definite pathophysiology remains unclear.
HDR syndrome is caused by haploinsufficiency of the GATA3 gene located at chromosome 10p14.
