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
- 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.
- Jones, K. Kabuki syndrome. In: Smith's Recognizable Pattern of Human Malformation. 6th edition. Philadelphia, PA: Elsevier Saunders; 2006.
- Adam MP, Hudgins L, Hannibal M. Kabuki syndrome. 2011 Sep 1 [Updated 2013 May 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016
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Are there other names for Kabuki syndrome?
Kabuki syndrome is also known as:
- Kabuki makeup syndrome
- Niikawa-Kuroki syndrome
- National Organization for Rare Disorders (NORD). Kabuki syndrome. http://rarediseases.org/rare-diseases/kabuki-syndrome
- Online Mendelian Inheritance in Man (OMIM):#147920. KABUKI SYNDROME 1; http://www.omim.org/entry/147920
How common is Kabuki syndrome?
Kabuki syndrome occurs in about 1 in 32,000 births.
- Kabuki syndrome. (2013). U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition/kabuki-syndrome
- Adam MP, Hudgins L, Hannibal M. Kabuki syndrome. 2011 Sep 1 [Updated 2013 May 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
Why is it called Kabuki syndrome?
The name Kabuki syndrome is based on the unique facial features of affected people. Their facial features are said to look like the stage makeup used in traditional Japanese theater. This type of theater is called Kabuki. Talk to a medical geneticist to learn more about Kabuki syndrome. To find a medical geneticist near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.
What is the usual abbreviation for Kabuki syndrome?
Kabuki syndrome is usually abbreviated as KS. It may also be abbreviated as KMS. KMS stands for Kabuki makeup syndrome.