Kabuki Syndrome – Pictures, Symptoms, Causes, Treatment, Diagnosis

What is Kabuki Syndrome?

Kabuki Syndrome is a rare type genetic disorder where the affected people have distinctive facial features like the make-up worn by the actors in Japan. People who has this disease show signs of mental and skeletal disabilities. This condition is also called by the medical professionals as Niikawa-Kuroki Syndrome.

Signs and Symptoms of Kabuki Syndrome

Distinctive features :

• arched eyebrows
• long and thick eyelashes
• long opening of the eyelids, lower eyelids turned outward at the outside of the edges
• flat broadened tip of the nose
• large protruding earlobes
• ill-formed ears or ears that looked like an elf
• saggy eyelids
• short fingers and toes
• short in physique
• small head
• congenital deformity like having a cleft lip or cleft palate
• skeletal abnormalities like scoliosis
• distinctive behaviors like they do not socialize a lot, they have minimal contact with other people, they also have routine or rituals and they have a happy disposition
• intellectual disability or mentally retarded
• there is a delay in speech and language that will make a person hard to have a communication
• People with this kind of disorder have early puberty, they mature faster than the normal individual, and they develop secondary sexual characteristics earlier than the normal person.
• there is a visible weight gain during puberty age that if not supervise well can lead in obesity

Other health problems that are associated with Kabuki Syndrome

• presence of ear infection that if left untreated can lead the person having hearing loss.
• visual problems like involuntary eye movement and their eyes looks in the opposite direction
• cardiac disorder
• dental problems like having small, irregular size of teeth
• neurological disorder
• urinary tract infection
• kidney abnormalities
• bowel problems
• immune system dysfunction
• feeding problems during infancy that will require them to used tube feeding
• reduce muscle tone that will result that they are risk in injury.

Causes

The main cause of this disease is still unknown but medical professionals believe that this caused can affect the child to acquire this disease:

• Genetic Mutation

: there is a specific gene that is called MLL2 where every individual have 2 copies of it and one of those copy have a problem that can cause having a Kabuki Syndrome.

• Inheritance : it means that the development of this disease is due to a gene carrying parent. It means that even one of the parents carries this type of gene there is a high possibility that it can pass through the child.

Diagnosis

• Physical Assessment : based on the visible signs and symptoms presented by the patient that will help medical professionals in identifying the disease.
• Genetic Testing : if there are any genetic mutation that is visible in the genes that caused this disease.
• X-ray : to visualize the bone structure and abnormality. It will help the medical professionals to see any abnormalities in the formation of bones and abnormalities in the organ that can be connected in having a Kabuki Syndrome.

*The Kabuki Syndrome is difficult to diagnose because:

1. Its rarity
2. Children presents slightly different characteristics from one another
3. Some characteristics may not be present at birth
4. Many medical professionals are not familiar with the disease

Treatment

Kabuki syndrome is a disease that is permanent and still there no available specific cure for this disease. The treatment only focuses on reducing complications and helps the individual to improve their quality of life.

• Surgical treatment if needed, especially if those patients have heart disease that needs surgical repair and those patients that have congenital defects
• Antibiotics if there are any presenting infection
• If there is a present hearing loss, hearing aid will be given to the patients that has a kabuki syndrome
• Medications for epilepsy
• Orthopedic treatment if there are skeletal abnormalities. Medical professionals will help the patient to minimize or to correct the abnormality that had been developed.
• Dental surgery to fix dental problems
• Physical therapy to help the patients to strengthen muscles to make them more independent as well as to help them to avoid injury.
• Occupational therapy to improve patients fine motor skills
• Speech therapy to improve language
• Social skills training due for having behaviors that they don’t want to socialize

Prognosis

The Kabuki Syndrome is a type of disease that is rare which makes the treatment and cure is far reach. The signs and symptoms of this disease vary greatly from one person to another so the type of treatment that is applicable for them is different. The prognosis of this Kabuki Syndrome will depend on the severity of the signs and symptoms and to the extent to which specific treatment that are needed is given and available. There are still no specific studies that this disease makes the life expectancy of an individual shorter. When comes in fertility both male and female can become parents.

Long-Term Outlook for Kabuki Syndrome

Kabuki Syndrome is a rare type of disease, so there is limited information and studies about the long-term outlook for this disease. These issues that are mentioned about the disease should be considering when dealing about Kabuki Syndrome patients.

• Individual who has this disease can normally live life and their life span is also normal but these people that is affected by Kabuki Syndrome is affected by many conditions that will require consistent medical supervision by medical professionals.
• The people affected by the disease are able to work and ability to manage things that a normal person do but having this disease they still need a close supervision and support that will help them to attain their goals.
• People that have a Kabuki Syndrome can develop certain diseases like heart problems, diabetes, and become obese if not supervise well by a medical professional.

Pictures