Mira Virda¹

The Quadrant 1(2):14-15

How to cite: Virda M. Kabuki Syndrome: A Narrative Review. The Quadrant. 2023; 1(2):14-15

DOI: https://doi.org/10.5281/zenodo.11111926

ABSTRACT

Kabuki Syndrome is a congenital disorder present from the birth. It affects 1 in 32,000 Japanese people. It is caused by heterozygous mutation that results in an uncommon systemic progression of the disease. A peculiar facial dysmorphia with dwarfism and varying degrees of mental retardation are the defining characteristics of this syndrome

HIGHLIGHTS

• Kabuki syndrome is a rare genetic disorder characterized by distinct facial features, developmental delays, and various physical and intellectual disabilities.

• Individuals with Kabuki syndrome often have unique facial characteristics and may also experience skeletal abnormalities, heart defects, and hearing loss.

CORRESPONDING AUTHOR AFFILIATIONS

¹ Department of Pediatrics & Preventive Dentistry, College of Dental Sciences & Research Centre, Ahmedabad, India

Kabuki Syndrome: A Narrative Review

Received: 14th August 2022

Accepted: 7th November 2022

Published: 7th February 2023