Kabuki syndrome

Kabuki syndrome is a rare congenital disorder of genetic origin, named for a resemblance between its distinctive facial features, including elongated eyelids with everted lower lids, arched eyebrows, long eyelashes, prominent ears and a flat nasal tip, and the makeup of traditional Japanese Kabuki theatre. It arises from mutations affecting chromatin modification: Type 1, about 55 to 80 percent of cases, involves the KMT2D gene on chromosome 12, while Type 2, about 5 percent, involves the KDM6A gene on the X chromosome; most cases occur de novo rather than being inherited. Associated complications include intellectual disability, developmental delay, skeletal abnormalities, cardiac defects, hearing loss and immune deficiencies. The syndrome affects roughly one in 32,000 births across all populations equally.