hypoparathyroidism-deafness-renal disease syndrome

A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GAT

A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.

Signs and symptoms

• Basal ganglia calcification
• Unilateral renal dysplasia
• Aplasia of the uterus
• Aplasia of the vagina
• Tetany
• Ptosis
• Pseudopapilledema
• Horizontal nystagmus
• Primary amenorrhea
• Sensorineural hearing impairment

Also known as: Barakat syndrome; HDR syndrome; hypoparathyroidism, sensorineural deafness, and renal disease