Kabuki syndrome is a rare genetic disorder that manifests in many different ways, including changes to the face, muscles, bones, and internal organs. While the illness manifests differently in each affected child, the common presentations are usually distinctive facial features and bone deformities.

The prevalence of Kabuki syndrome is quite low. Globally, 1 in 32,000 to 1 in 86,000 babies are affected.

Kabuki syndrome is caused by a change or mutation in one of two genes that are responsible for DNA regulation. 75% of instances are due to a mutation in one of the genes (KMT2D), referred to as type 1 Kabuki syndrome. In 3% to 5% of cases, the condition is caused by a change in another gene (KDM6A), Kabuki syndrome type 2.

Kabuki syndrome manifests differently and symptoms can vary from child to child. The most common signs of this disease are:

• Eyebrows that are arched, eyes that are long and broad, thick eyelashes, a flat nose tip, and big ears;
• Short fingers (particularly the fifth finger), misshapen vertebrae, and minor cases of spina bifida or scoliosis;
• Weak muscles (hypotonia);
• Very flexible joints;
• Eye misalignment (strabismus);
• Feeding problems;
• Frequent infections;
• Problems with hearing or loss of hearing;
• Congenital heart anomalies such as aortic coarctation, ventricular septal defect, and atrial septal defect;
• Diseases of the endocrine system, such as diabetes, hypothyroidism, growth hormone insufficiency, and hypoglycemia (low blood sugar).

When a doctor suspects that a child may have Kabuki syndrome through history taking and physical examination, a genetic test is done to see whether the target gene has mutated. If no mutation has occurred, blood tests or chromosomal investigations are ordered to rule out other problems.

Treatment

Kabuki syndrome has no known cure but supportive treatments are done to help relieve some of the symptoms children experience. These include:

• Early interventions include enrolling a child in services and schooling that will help them develop cognitively;
• Physical therapy to make the muscles get stronger; 
• Occupational therapy to help in getting better at using small muscles;
• Speech therapy to help in speaking and make them understand better;
• ABA and sensory integration therapy are treatments for autism spectrum disorder and problems with the senses;
• Gastronomy tubes or supplemental growth hormone to help with difficulty in eating;
• Hearing aids for hearing loss or to hear better;
• Medications to control symptoms like seizures, acid reflux, ADHD, and others;
• Surgery for joint scoliosis, heart problems, and cleft palate.

Because it is a genetic disorder, Kabuki syndrome cannot be avoided. Most of the control measures are just addressing the symptoms but not the cause.

References

Cleveland Clinic (2022). Kabuki Syndrome. Retrieved December 27, 2022, from https://my.clevelandclinic.org/health/diseases/24095-kabuki-syndrome 

Boston Children’s Hospital (2022). Kabuki Syndrome. Retrieved December 27, 2022, from https://www.childrenshospital.org/conditions/kabuki-syndrome