Have you ever heard of Kabuki Syndrome? Probably not. Because it's a rare genetic condition. But it's important to be aware of it, especially if you're a parent. Simply put, this condition can affect many different parts of your child's body. Often, these children have distinctive facial features, slight changes in their skeletal system, some delays in intellectual development, and developmental problems after birth. But not every child has these symptoms, and the severity of the condition can vary from person to person. Let's talk about this in a little more detail, shall we?
How did the name "Kabuki" come about?
This is also a very interesting story. In 1981, two Japanese scientists first discovered this condition called Kabuki Syndrome. One of them named it "Kabuki Makeup Syndrome". The reason for this is that the facial features of many children with this condition resemble the makeup of actors in "Kabuki" plays, a traditional Japanese theater art. Imagine, the way the actors wear their eyelashes and the shape of their eyes are similar to the facial features of these children. But later, scientists removed the word "makeup" and started using the name "Kabuki Syndrome". Sometimes you may also hear this condition called `Kabuki disease`, `KMS` or `Niikawa-Kuroki syndrome`.
What are the symptoms of Kabuki syndrome?
Although Kabuki syndrome is a congenital condition, your baby may not show symptoms at birth. Sometimes it can take several years for symptoms to appear. It is also important to remember that the symptoms your child experiences and their severity may vary from person to person.
Kabuki syndrome can affect various organs and systems in a child's body. Let's take a look at the most common symptoms:
Specific facial features
This is the first thing most people see.
- The eyelashes curl upwards and are set wide apart. There may be a loss of hair at the tip of the eyelashes.
- The openings between the eyelids (palpebral fissures) become abnormally long.
- The tip of the nose becomes flat.
- The earlobes can be large and cup-shaped.
Changes in the skeletal system
Some changes can also be seen in the bones of the body.
- Spinal abnormalities (such as scoliosis).
- The pinky finger can be bent. This is called clinodactyly in medical terms.
- The fingers and toes may become short (brachydactyly).
Characteristics related to the nervous system
You can also see some things related to the brain and nervous system.
- Mild or moderate intellectual disability.
- Epileptic seizures.
- Speech delays.
- Muscle weakness (this is called ``hypotonia''). This means that the body feels a little limp.
Growth and gastrointestinal problems
This can affect the child's growth and eating habits.
- Height and weight may be normal at birth, but some growth problems may appear around 12 months of age.
- The head size may be smaller than average.
- There may be difficulty eating and swallowing.
- There is a risk of becoming obese when you are young and when you become an adult.
Important: Just one or two of these symptoms does not necessarily mean that a child has Kabuki syndrome. It is important to seek medical advice for an accurate diagnosis.
Other organs and systems that may be affected
In addition to these main symptoms, Kabuki syndrome can cause various other problems.
- Congenital heart disease (heart disease present at birth).
- Gastrointestinal problems (e.g. constipation, gastrointestinal reflux or food coming up into the throat).
- Kidney and reproductive system problems.
- Cleft lip and/or palate.
- Eyelid drooping or drooping eyelids.
- Having large gaps between the teeth.
- Increased risk of frequent infections or autoimmune disorders.
- Hearing impairment.
- Precocious puberty.
What causes Kabuki syndrome?
Okay, now let's look at the underlying cause of this condition. Kabuki syndrome is caused by a variation (variant) in one of two genes.
In most cases, about 75%, it is caused by a mutation in a gene called `KMT2D` (formerly known as `MLL2`). This is called Kabuki syndrome type 1.
The other 3% to 5% are caused by a mutation in the gene KDM6A. This is called Kabuki syndrome type 2.
Simply put, these two genes tell our cells to make special enzymes. These enzymes modify proteins called histones. These histones attach to our DNA and give our chromosomes their shape. So, by modifying these histones, those enzymes can control the activity of our genes. These enzymes are very important for a child's development.
So, when there is a change in the `KMT2D` gene or the `KDM6A` gene, these enzymes are not produced. Then, because the body does not have these enzymes, the genes do not function properly. That is the reason for the symptoms and developmental abnormalities seen in Kabuki syndrome.
However, sometimes Kabuki syndrome is diagnosed but no changes in either gene are found. In such cases, experts are still unable to pinpoint the exact cause of the condition.
How do doctors recognize this?
If you think your child has these symptoms, the first thing you should do is see a doctor. The doctor will ask you about your child's medical history and examine your child. He or she will look for any specific facial features, skeletal abnormalities, or neurological abnormalities that are associated with Kabuki syndrome. He or she will also ask about the medical history of the child's family (biological family).
Diagnostic tests
To confirm the diagnosis, the doctor will order genetic testing. This involves taking a sample of the child's blood and looking for changes in the genes that cause Kabuki syndrome.
As I mentioned before, some children with Kabuki syndrome may not have a mutation in either of these genes. In such cases, the doctor may do other blood tests or chromosomal studies to rule out other conditions.
What are the treatments for Kabuki syndrome?
This may sound a little sad, but there is no cure for Kabuki syndrome. However, there are treatments. The main goal of these treatments is to control your child's specific symptoms and reduce the risk of complications. Let's take a look at what these treatment options are:
- Early interventions: Referring a child to support services and special education programs at an early age helps with their intellectual development.
- Sensory integration therapy: This involves exposing the child to various sensory activities and helping them manage how they respond to stimuli.
- Various therapeutic treatments:
- Physical therapy can strengthen the child's muscles.
- Occupational therapy can help develop fine motor skills, such as small movements performed with the fingers.
- Speech therapy can help develop speaking and language skills.
- Thickened foods and/or insertion of a gastrostomy tube: If your child is having difficulty eating, your doctor may suggest these options.
- Supplemental growth hormone therapy: Children with growth hormone deficiency and short stature may benefit from this treatment.
- Hearing aids or pressure-equalizing tubes: If you have hearing loss, these devices can help.
- Medication: Medications can be used to control symptoms such as seizures, gastrointestinal reflux, and ADHD (attention deficit hyperactivity disorder).
- Surgery: There are times when surgery may be necessary for things like scoliosis, heart disease, and cleft lip and palate.
The exact treatment your child receives will depend on the parts of their body affected and their symptoms. They may also need to see a variety of specialists (e.g., a cardiologist, a neurologist, a dentist, an endocrinologist, a gastroenterologist, an immunologist, an ophthalmologist, or an urologist).
Clinical trials and other research are currently underway to find a cure for the underlying cause of Kabuki syndrome.
If my child has Kabuki syndrome, how can I help him?
It's normal to feel shocked and scared when you learn something like this. But you're not alone. The most important thing you can do is learn as much as you can about this condition. Work with your child's doctor to find out what you can do to provide the best care for your child. It can also be very helpful to join support groups for families of children with rare diseases. There you can share experiences with other parents, ask questions, and find comfort.
What is the life expectancy of someone with Kabuki syndrome?
The prognosis and life expectancy of someone with Kabuki syndrome depends on the severity of their condition. Although the disease can affect many parts of the body, it is not always the case. Treating the child's specific symptoms and preventing complications is key to improving their future.
Adults with this condition can live a normal life span. They can perform daily activities and work part-time jobs. However, they often need supportive care. Because the condition is so rare, there hasn't been much research on the life expectancy of people with Kabuki syndrome. So, it's best to ask your child's doctor about their life expectancy based on their specific condition.
Finally, things to remember
It can be scary to find out that your baby has a genetic condition. However, the symptoms, treatment, and prognosis of Kabuki syndrome vary greatly from person to person. Talk to your child's doctor to learn more about your child's specific condition. He or she can help you on this journey. Support groups for families affected by rare genetic conditions can also be a great source of strength. They can answer your questions and give you hope for your child's condition. Never feel alone. Don't hesitate to get the help you need.
` Kabuki Syndrome, Genetic Diseases, Children's Diseases, Facial Features, Developmental Problems, Intellectual Development, Kabuki Syndrome, Rare Diseases
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