Kabuki Syndrome

Kabuki syndrome (KS) is a rare multi-systemic genetic disorder characterized by peculiar facial dysmorphisms, mild-moderate intellectual disabilities, postnatal growth deficiency, multiple skeletal and visceral anomalies, in combination with many immunological abnormalities. It is estimated to affect 1/32,000-1//86,000 individuals in the general population. KS is an autosomal dominant condition usually caused by heterozygous loss-of-function mutations in either of two genes: lysine-specific methyltransferase 2D (KMT2D) or lysine-specific demethylase 6A (KDM6A). Both genes changes the methylation status of histone 3, facilitate the opening of chromatin, and promote gene expression therefore loss in the function of either of these two genes alter the chromatin structure and gene expression. There is no therapy available for the treatment of KS. Click here to visit NORD web page for additional information.