A Rare Neonatal Presentation of KBG Syndrome with a Novel Genetic Mutation of KIAA1109-Related Syndrome: A Case Report

Abstract

KBG syndrome is a rare genetic disorder that presents with variable clinical features involving multiple systems and is caused by pathogenic variants in the ANKRD11 gene. The KIAA1109-related syndrome is a rare autosomal recessive inherited disorder caused by pathogenic variants in the KIAA1109 gene and presents with severe developmental delay, brain malformations, and seizures. This case report presents a rare and unique neonatal presentation of KBG syndrome associated with a novel genetic mutation of KIAA1109-related syndrome. The patient’s clinical features, investigations, treatment, and follow-up are discussed, shedding light on the coexistence of two distinct genetic conditions in a single individual.