Kabuki syndrome


What's Kabuki syndrome?

Kabuki syndrome is a rare genetic disorder that affects different parts of the body. It can be caused by changes in two different genes. Kabuki syndrome is caused by an error in the gene called KMT2D. Genes provide the instructions that control the body's growth and development. When there is an error in the gene, the body develops differently. Symptoms of KS include:

  • Unique facial features
  • Developmental delay and intellectual disability
  • Seizures
  • Small head size
  • Weak muscles
  • Eye problems
  • Short height
  • Bone problems

Facial features include arched eyebrows, long eyelashes, wide eyes, lower eyelids turned out at the outside edges, a broad and flat nose tip, and large ears. Eye problems include fast eye movements and eyes that do not look in the same direction. Bone problems include curving of the spine, abnormal fingers (typically short fifth fingers) and abnormal hip and knee joints. People with KS may also have unusual fingerprints with fleshy pads at the fingertips. These are called fetal finger pads. Other problems include the heart problems, hearing issues, and early puberty. Kabuki syndrome is usually diagnosed by a type of doctor called a medical geneticist. To find a medical geneticist near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/147920-kabuki-syndrome-1-3578/overview/6793 • DATE UPDATED: 2016-06-21


Contact a ThinkGenetic Counselor

Do you have additional questions that haven't been answered? Ask a ThinkGenetic Counselor — a real expert in the field of genetics. Just fill out this form to send an email. We will be in touch within 48 hours.

Please sign me up for your mailing list.

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me

Welcome to the ThinkGenetic beta. More content is added weekly so come back and check often. Please provide your feedback by filling out a contact us form.