Show notes
Kabuki syndrome is a very rare and unique genetic condition whose wide-ranging effects can touch almost every organ system in an affected person’s body. Remarkably, it shows up differently in every person, and the ramifications can spin seemingly endless and often mysterious medical challenges for individuals and their families. On this episode of One Rare Heart, we hear about the profound ways this disease has affected one family and their daughter. We also talk with a geneticist at Boston C...

