Document Type

Student Presentation

Presentation Date


Faculty Sponsor

Julia Oxford


Kabuki Syndrome (KS) is a rare genetic disorder characterized by multiple developmental abnormalities, and varying degrees of cognitive impairment. Hallmark features of this disorder typically include distinctive facial features, skeletal and dermatoglyphic abnormalities, intellectual disability, and postnatal short stature. These features form the basis for diagnosis, though individuals suffering from KS will present a host of other ailments spanning from cardiovascular and digestive abnormalities, to immunological deficiencies. The majority of cases arise due to de novo mutations, but KS can be inherited through autosomal dominance. Genes identified as suspect in the disease’s manifestation include KMT2D and KMD6A, which are both involved in histone modification. Mutations in these genes account for 75% of those clinically diagnosed with KS. Treatment is centered around the mitigation of symptomology unique to each patient, and early diagnosis is crucial to improving prognosis. Recent findings have shown that neurological and immunological pathology has potential for improvement in animal models, as well as the role of hypoinsulinism in the manifestation of hypotonia and growth retardation. This presentation seeks to review recent data on KS, and to provide information on the role of development in this disease.