This week, Mystery Monday focussed on Kabuki syndrome with thanks to the Kabuki syndrome foundation for the fantastic resources. 23 October is Kabuki syndrome awareness day!
Kabuki syndrome is a rare genetic disorder characterized by a unique combination of physical, developmental, and medical challenges. Named after the traditional Japanese theatrical makeup that the facial features of affected individuals may resemble, Kabuki syndrome is typically diagnosed in infancy or early childhood. The condition is primarily caused by mutations in one of two genes, KMT2D and KDM6A, which are involved in regulating gene expression. These mutations disrupt the normal development of various body systems, leading to distinctive facial features, skeletal abnormalities, intellectual disabilities, and a range of other health issues.
Management of Kabuki syndrome typically involves a multidisciplinary approach, including speech therapy, physical therapy, and educational support to address developmental and intellectual challenges. Additionally, individuals with Kabuki syndrome may require surgery to correct skeletal abnormalities or manage heart and kidney issues. While there is no cure for Kabuki syndrome, early intervention and comprehensive care can significantly improve the quality of life for affected individuals, helping them overcome many of the hurdles associated with this rare and complex condition.
Where can I find out more about Kabuki syndrome?
For more information and up to date research, head on over www.kabukisyndromefoundation.org and if you missed this week’s Mystery Monday feature, be sure to check out our Instagram highlights here: