KS is a multiple congenital anomaly syndrome characterized by distinctive facial features (reminiscent of the actors performing Japanese Kabuki theatre) and mild-moderate intellectual disability. Additionally, patients can have congenital heart defects, urogenital abnormalities, skeletal abnormalities, and post-natal growth retardation.
KS is caused by mutations in the KMT2D gene. GeneDx conducts bi-directional sequence analysis of the entire coding region (exons 1-54) and splice sites of the KMT2D gene. Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is available once a mutation has been identified.