Kabuki Syndrome: Current Understanding of Symptoms and Treatment Strategies

Abstract

Kabuki syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder can be an autosomal dominant or X-linked pattern. In this disease, KMT2D AND KDM6A genes are disrupted, which encode histone methyltransferase and histone demethylase, respectively. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability, and limb deformities. Kabuki syndrome treatment may vary based on the specific symptoms that appear in each individual. This review will examine the genes involved in this disease, phenotype, clinical manifestations, ways of diagnosis, and treatment of this disease.