Kabuki syndrome
Kabuki syndrome (pronounced: kah-boo-kee sin-drome) is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.
Etymology
The term "Kabuki" comes from the Japanese word for a type of traditional theatrical performance that features elaborate costumes and makeup. The syndrome was named for the resemblance of affected individuals to the theatrical makeup of actors in Kabuki theater.
Symptoms
The symptoms of Kabuki syndrome can vary greatly from one person to another. Some of the most common symptoms include:
- Distinctive facial features such as long palpebral fissures, lower eyelid eversion, arched eyebrows, and large, prominent ears.
- Growth delays and short stature.
- Intellectual disability of varying degrees.
- Skeletal abnormalities such as scoliosis, short fifth fingers, and abnormalities of the vertebrae.
- Dermatoglyphics or unusual fingerprint patterns and palm creases.
Causes
Kabuki syndrome is caused by mutations in the KMT2D and KDM6A genes. These genes provide instructions for producing proteins that play a crucial role in regulating the activity of other genes.
Diagnosis
Diagnosis of Kabuki syndrome is based on clinical criteria. Genetic testing can confirm the diagnosis in some cases.
Treatment
Treatment of Kabuki syndrome is symptomatic and supportive. It may include physical therapy, special education, speech therapy, and other medical, social, and/or vocational services.
See also
References
External links
- Medical encyclopedia article on Kabuki syndrome
- Wikipedia's article - Kabuki syndrome
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