Kabuki syndrome

Overview

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

References

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