October is Kabuki Syndrome Awareness Month!
And it’s important to connect with other people in the community; there’s always strength in numbers.
So let’s learn a little more about Kabuki syndrome and about some of their advocates!
What is Kabuki Syndrome?
Kabuki syndrome is a rare multisystem disorder that is characterized by symptoms including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. However, a wide range of additional symptoms that affect multiple different organ systems can also potentially occur.
The disorder was originally called Kabuki-makeup syndrome because the facial features of many affected children resembled the makeup used by actors in kabuki, which is a form of Japanese theater. Since then, the term “makeup” has been dropped.
The specific symptoms that are associated with Kabuki syndrome vary greatly from one affected individual to another. The distinctive facial appearance of affected individuals, of which the disease was named, include the following features that develop slowly over several years:
- Long openings between the eyelids
- Lower eyelids that are turned outward
- Prominent eyelashes
- Arched eyebrows
- Broad nose with a flattened or depressed tip
- Large ears with a distinct shape
In addition to these facial features, other symptoms of Kabuki syndrome include the following:
- Growth deficiency and short stature
- Mild to moderate intellectual disability
- Seizures and diminished muscle tone
- Feeding difficulties, such as gastroesphogeal reflux, poor sucking ability, and difficulty absorbing or digesting nutrients from food
- A variety of dental and/or skeletal malformations
Click here to learn more about Kabuki syndrome!
All Things Kabuki
All Things Kabuki is an advocacy group whose mission is to raise awareness, incite research, and support individuals and families affected by Kabuki Syndrome.
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How are you supporting Kabuki Syndrome Awareness Month? Share your stories, thoughts, and hopes with the Patient Worthy community!
