What is Barakat Syndrome

Barakat Syndrome, also known as HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness, and Renal Anomalies), is a rare genetic disorder that affects multiple systems in the body.

Hypoparathyroidism is a key feature of Barakat Syndrome, where the parathyroid glands produce insufficient amounts of parathyroid hormone, leading to low levels of calcium in the blood. This can result in symptoms like muscle cramps, seizures, and tingling sensations.

Sensorineural deafness is another characteristic of this syndrome, causing hearing loss that is typically present from birth or early childhood. The severity of hearing impairment can vary.

Renal anomalies refer to abnormalities in the kidneys, which can include structural defects or impaired kidney function. These renal issues may lead to complications such as recurrent urinary tract infections or kidney failure.

Barakat Syndrome is caused by mutations in the GATA3 gene, which plays a crucial role in the development of the parathyroid glands, inner ear, and kidneys.

Management of Barakat Syndrome involves addressing the specific symptoms and complications experienced by each individual. Treatment may include calcium and vitamin D supplementation for hypoparathyroidism, hearing aids or cochlear implants for hearing loss, and regular monitoring of kidney function.