A rare genetic condition in which the child’s facial features, musculoskeletal system, and other organs are affected is called Kabuki syndrome. Children usually experience different symptoms because they depend on which part of the body is affected. While the primary symptoms are distinct facial characteristics, Kabuki syndrome may also cause other symptoms.
In other words, Kabuki syndrome is a genetic disorder that negatively affects multiple parts of the body. Commonly, unusual facial characteristics include a long opening between the eyelids, arched or broad eyebrows, and a flat tip of the nose.
This disease was discovered by two Japanese scientists in 1981. One of them named this condition “Kabuki makeup syndrome” because the facial features are similar to the stage makeup work by Kabuki dancers. This is a traditional form of Japanese theater. Sometimes, this genetic disorder is called Kabuki disease, KMS, or Niikawa-Kuroki syndrome.
What Are The Symptoms of Kabuki Syndrome?
This is a congenital (present at birth) condition, and it may not cause symptoms at birth. Most of the time, the symptoms appear within the first years of life. Check some common characteristics of this syndrome below:
- Unusual facial features
- Skeletal abnormalities – For example, abnormal bones of the spine, a bent fifth (pinky) finger (also known as clinodactyly), short fingers and toes (brachydactyly), and others.
- Neurological issues – These include mild to moderate intellectual disability, seizures, speech delays, and hypotonia (weak muscle tone).
- Gastrointestinal and growth problems – While weight and height are normal at birth, you may notice your child has growth difficulties by approximately 12 months of age. Other children may also experience small head size, dysphagia (swallowing problems), obesity (excessive body weight), and other conditions.
People with Kabuki syndrome may have problems with different organs and body systems. Check for other symptoms below:
- Gastrointestinal problems
- Cleft lip or palate
- Kidney issues
- Problems with reproductive organs
- Widely spaced teeth
- Crossed eyes or drooping eyelids
- Congenital heart defects
- Deafness (hearing loss)
- Early puberty
- Increased risk for infections and certain autoimmune conditions
Immediately contact your healthcare professional if any of the previous symptoms occur. Otherwise, it may lead to unpleasant outcomes.
Causes
This health condition is often caused by a genetic change (mutation) in one or two genes. For instance, a mutation in the KMT2D gene (previously known as MLL2) causes about 75% of all diagnosed cases of Kabuki syndrome (sometimes, it is called Kabuki syndrome type 1). Approximately 3% to 5% of people develop Kabuki syndrome (in some cases, it is called Kabuki syndrome type 2) due to a change in the KDM6A gene.
In normal circumstances, both genes are responsible for producing enzymes that alter a type of protein called histones. Thus, they attach to the DNA and give the chromosomes their shape. Furthermore, these enzymes are also involved in the child’s development. Without them, it may lead to abnormal genes and other symptoms. In rare cases, people develop Kabuki syndrome but do not have any of the previous abnormal genes in their blood. In such cases, doctors do not know what exactly causes this syndrome.
Risk Factors
Physicians have found some factors that may increase the risk of developing Kabuki syndrome. Some examples are listed below:
- Advanced paternal age – According to some studies, advanced paternal age could play a role in people with this syndrome.
- Gender – There are some clinical studies that indicate a slightly higher risk in males.
- Autosomal dominant – A lot of diagnosed cases occur when the abnormal gene passes from the biological parents to their children during pregnancy. The term autosomal dominant means that the child can develop this syndrome even if only one abnormal gene is passed.
What Are The Potential Complications of Kabuki Syndrome?
Those who develop this condition may also experience the following complications, especially if it is poorly managed. Check some of them below:
- Heart defects, including coarctation of the aorta, ventricular septal defects (VSD), and atrial septal defects (ASD)
- Respiratory problems
- Weakened immune system
- Autoimmune disorders
- Endocrine abnormalities, including growth hormone deficiency, hypothyroidism (underactive thyroid gland), diabetes, early puberty, and others
- Low blood sugar (also known as hypoglycemia)
- Intellectual and cognitive impairment
- Seizures
- Scoliosis
- Chronic diarrhea or constipation
- Abnormal structure of the kidneys, urinary tract, or reproductive organs
This article does not contain a complete list of complications, but you can talk with your doctor about ways to reduce the risk. In addition, there is no way to prevent this condition, especially when it occurs due to a random genetic mutation.
Diagnosis
Usually, the diagnosis of Kabuki syndrome starts with a physical examination in which doctors will check for abnormalities linked to the disease. Thereafter, they may also ask some questions about the symptoms and medical history to get more clues about your child’s disease. In some cases, they may also perform blood and genetic tests to check for abnormal genes that are present in some people with Kabuki syndrome.
Treatment
Most children who suffer from this genetic disease require a healthcare team to manage their condition. These include cardiologists, endocrinologists, dentists, neurologists, immunologists, urologists, ophthalmologists, and others. Unfortunately, there is no way to cure this condition. That’s why the treatment goal is to ease the symptoms, slow down the progression of the disease, prevent life-threatening complications, and improve your child’s quality of life. Check some treatment options below:
- Early interventions – Usually, doctors recommend specialized education and supportive services to help improve your child’s cognitive development.
- Sensory integration therapy – This treatment is used to regulate their responses to stimuli.
- Other therapies – These include physical therapy (to strengthen the child’s muscles), occupational therapy (to improve fine motor skills), speech therapy (to improve language and speech problems), and others.
- Thickened feeds or a gastronomy tube – These options are used to improve feeding problems.
- Supplemental growth hormone therapy – Doctors often recommend this therapy to treat the deficiency of growth hormone.
- Hearing aids
- Medicines – Usually, doctors prescribe medicines to manage seizures, gastrointestinal reflux, ADHD (attention-deficit/hyperactivity disorder), and other symptoms of Kabuki syndrome.
- Surgery – Sometimes, doctors recommend this treatment to treat scoliosis, heart defects, cleft lip or palate, and other problems.
Frequently Asked Questions
What is the life expectancy for someone with Kabuki syndrome?
In general, the life expectancy varies among people with this syndrome because it depends on several factors. For example, the severity and type of the condition, age, sex, overall health, and your response to treatment. In general, there are adults with Kabuki syndrome who have a normal lifespan, but they still need supportive care.
Is Kabuki syndrome a form of autism?
No, this is a genetic disorder caused by a mutation in the KMT2D or KDM6A genes.
What are the behavioral problems of Kabuki syndrome?
People who suffer from this condition may have a distinct neurobehavioral profile, which includes pronounced anxiety, ADHD, obsessive-compulsive or autistic-like behaviors, and others.
Can Kabuki syndrome be detected before birth?
Yes. In some cases, prenatal genetic testing may identify mutations in the KMT2D or KDM6A genes if there is a known family history or if prenatal testing is performed for another reason. However, many cases occur due to new genetic mutations, making prenatal diagnosis challenging unless the specific mutation is already known.
How common is Kabuki syndrome?
Kabuki syndrome is a rare genetic disorder. It is estimated to affect approximately 1 in 32,000 people, although the exact frequency may vary by country. Increased access to genetic testing has led to more cases being identified in recent years.
Can adults have Kabuki syndrome?
Yes. Kabuki syndrome is a lifelong condition, and many people live into adulthood. Adults may continue to need medical monitoring for heart, kidney, endocrine, hearing, vision, and orthopedic problems. Moreover, many people with Kabuki syndrome are able to participate in school, work, and community activities with appropriate support.
Is Kabuki syndrome inherited?
Most cases are not inherited and occur because of a new genetic mutation. However, if a parent has Kabuki syndrome caused by a KMT2D mutation, there is a 50% chance of passing the altered gene to each child because it follows an autosomal dominant inheritance pattern. Mutations in the KDM6A gene follow an X-linked inheritance pattern.
Does Kabuki syndrome affect learning and development?
Yes. Many children with Kabuki syndrome experience developmental delays, learning disabilities, and speech or language difficulties. The severity varies widely from person to person. Early intervention programs, special education services, and speech, occupational, and physical therapies can help children reach their full potential.
What specialists should be involved in the care of a child with Kabuki syndrome?
Because Kabuki syndrome can affect multiple body systems, children often benefit from a multidisciplinary healthcare team. Depending on their symptoms, this may include a pediatrician, geneticist, cardiologist, neurologist, endocrinologist, gastroenterologist, orthopedic specialist, audiologist, ophthalmologist, dentist, speech therapist, occupational therapist, and physical therapist.
Can people with Kabuki syndrome have children?
Some adults with Kabuki syndrome can have children, although fertility may be affected in certain individuals due to reproductive abnormalities. Because the condition can be inherited, people with Kabuki syndrome who are planning a family should consider genetic counseling to better understand the chances of passing the condition to their children and discuss available reproductive options. Ask your healthcare provider if you have any other questions.
