Barakat syndrome – Case report of a rare multisystem genetic disorder

Author(s)	Dr. Venugopal Reddy Iragamreddy, Dr. Sushma Abbani Manjunath, Dr. Abhishek S Aradhya, Dr. Dinesh Kumar Vuppu
Country	India
Abstract	Barakat syndrome, also known as Hypoparathyroidism, Deafness, Renal disease (HDR) syndrome, is a rare autosomal dominant disorder. We report a case of a newborn female who presented with neonatal hypocalcemia, congenital hypothyroidism, and distinctive craniofacial features. Genetic testing confirmed a GATA3 mutation consistent with Barakat syndrome. Despite the absence of renal involvement at birth, the diagnosis was established based on clinical and genetic findings. This case highlights the variable presentation of Barakat syndrome and underscores the importance of early recognition, multidisciplinary evaluation, and genetic confirmation to guide long-term management and family counseling.
Keywords	hypoparathyroidism, GATA gene, deafness, renal abnormalities
Field	Medical / Pharmacy
Published In	Volume 7, Issue 4, July-August 2025
Published On	2025-07-24
DOI	https://doi.org/10.36948/ijfmr.2025.v07i04.50788
Short DOI	https://doi.org/g9vphd

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International Journal For Multidisciplinary Research