What is KBG Syndrome?

KBG Syndrome is a rare genetic disorder that affects many body systems. It is often characterized in current literature by skeletal abnormalities, distinct facial features and intellectual delays. The specific symptoms experienced may vary from one individual to another. KBG Syndrome is caused by mutations or loss of material in the gene ANKRD11. This syndrome can occur spontaneously, or randomly or be inherited by a parent. As our community grows and new information becomes available we are learning so much more. To learn more click on the links below.