By: C. J. Fields
What is Kabuki syndrome?
Kabuki syndrome is a genetic disorder that can affect multiple body parts. Kabuki syndrome is recognizable by the very unique facial features that are pre-sent in people with the disorder. These facial features are: arched eyebrows; long eyelashes; long openings of the eyelids with the lower lids turned out at the outside edges; a flat, broadened tip of the nose, and large protruding earlobes (Genetics Home Reference, 2011). Recent statistics indicate that Kabuki syndrome affects about 1 in every 32,000 children born in the U.S.
Common complications of Kabuki syndrome:
- developmental delays and intellectual disabilities that can range from mild to profound
- small head size (microcephaly)
- weak muscle tone (hypotonia)
- nystagmus (involuntary eye movements)
- stabismus (eyes that do not look in the same direction)
- short stature
- Skeletal abnormalities
- cleft palate
- dental problems, including hypodontia (unusually sharp teeth)
- heart abnormalities
- frequent ear infections
- hearing loss
- early puberty
- vision loss
- gastroesophageal reflux
- behavioral difficulties
- immunological abnormalities
- hyperextensible joints
- recurrent infections
Cause and Diagnosis
Very recently researchers at the University of Washington identified mutations in the MLL2 gene as being attributable to as much as 75% of people who have Kabuki syndrome. With this recent discovery a blood test has been developed to assist in the diagnosis of the syndrome. In addition to the clinical blood test, a geneticist familiar with the syndrome will also likely need to be consulted. Geneticists most commonly make a Kabuki syndrome diagnosis by identifying 4 out of 5 of the following criteria:
- facial features common to the syndrome
- skeletal abnormalities
- dermatoglyphic abnormalities (unusual fingerprint patterns)
- intellectual disability
- short stature
Treatment and Management
Due the expansive nature of the disorder in its impact on multiple body parts and functions, children with Kabuki syndrome will likely need a myriad of therapies and supports to access their true potential. These therapies and supports may include occupational therapy, physical therapy, speech therapy, sensory therapy, feeding therapy, and educational supports and adaptations. In addition, these children will likely need assistance in managing their medical care throughout their lives. With the proper healthcare and developmental interventions, children with Kabuki Syndrome can be expected to live long and productive lives.
- Genetics Home Reference (2011). Kabuki syndrome.