Kabuki Syndrome

Kabuki syndrome is a rare congenital disorder with a predilection for affecting the skeletal, gastrointestinal, and cardiovascular systems, as well as causing intellectual disability and developmental delay. Key imaging findings include skeletal findings such as craniofacial and inner ear abnormalities. These radiological findings can be further complemented with physical examination and genetic testing in establishing a diagnosis. Although there is no cure, treatment is focused on addressing the quality of life for patients, including symptomatic management.