Síndrome de Kabuki

Kabuki syndrome

Others

Introduction

Kabuki syndrome is a genetic neurodevelopmental disorder characterized by intellectual disability, malformations in the internal organs (often including congenital heart defects), postnatal short stature, certain skeletal anomalies, and specific facial features that resemble the makeup of actors in Japanese theater, hence its name. The syndrome was discovered in 1981 in a Japanese pediatric population. It is primarily associated with mutations in the KMT2D and KDM6A genes.

Summary

This material, developed by professionals and families of patients, will cover topics such as the genetic origin of the syndrome, cardiac, neurological, or immunological conditions, as well as skeletal and hearing issues. The content of this book will be reviewed periodically to ensure it is up to date. If you have information to add to the content, please email us at info@share4rare.org. Many thanks to the AEFA Kabuki association for collaborating on the development of this book.