Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study.

Abstract

Kabuki syndrome is a rare congenital disorder characterized by a distinctive combination of craniofacial features, developmental anomalies, and intellectual disabilities. This study aims to provide a comprehensive exploration of Kabuki syndrome through a meticulous case series analysis focusing on its clinical features and genetic underpinnings. A cohort of 9 Kabuki syndrome patients was identified through a retrospective examination of medical records spanning from 1996 to 2022. These patients underwent various clinical assessments, radiologic investigations, neuropsychological evaluations, and targeted genetic analyses, specifically focusing on the KMT2D and KDM6A genes.The median age of diagnosis was approximately 4.7 years, with a male-to-female ratio of 6:3. Prominent clinical characteristics included distinctive facial features such as arched eyebrows, elongated eyelashes, ear abnormalities, fingertip pads, nasolabial anomalies, and oral alterations. Ophthalmologic and otologic manifestations were notable, alongside a spectrum of cardiovascular, gastrointestinal, and endocrine aberrations. The prevalence of neuropsychological disorders highlighted the cognitive and behavioral challenges experienced by Kabuki syndrome patients. Genetic investigations confirmed the involvement of variants in the KMT2D and KDM6A genes in the pathogenesis of Kabuki syndrome. In conclusion, this study emphasizes the importance of precise diagnosis, the adoption of a multidisciplinary care approach, and the tailored interventions for individuals affected by Kabuki syndrome. Furthermore, it underscores the need for continued research efforts to unravel the genetic intricacies and molecular mechanisms underlying this enigmatic syndrome.