What are the other Names for this Condition? (Also known as/Synonyms)

• Kabuki Makeup Syndrome (KMS)
• KMS (Kabuki Makeup Syndrome)
• Niikawa-Kuroki syndrome

What is Kabuki Syndrome? (Definition/Background Information)

• Kabuki Syndrome is a multi-organ, multi-system, congenital disorder that is caused due to genetic mutations. The typical features of the disorder include:
  • Eye-related signs and symptoms such as unique eye profile with curved eyebrows, long eyelid opening, long eyelashes, etc.
  • Facial features such as broad nose, big earlobes, abnormally-shaped mouth, dental defects affecting appearance of the face, small head, etc.
• Apart from the above, children with Kabuki Syndrome may have chronic ear infections, cardiac defects, and precocious puberty. There may also be an accompanying mental growth retardation
• The treatment of Kabuki Syndrome may involve physical and mental therapy, including restorative surgeries (and cosmetic surgery to correct facial defects), occupational therapy, and social skills development
• The prognosis of Kabuki Syndrome is generally good, but it depends upon the severity of the signs and symptoms and the complications that develop

Who gets Kabuki Syndrome? (Age and Sex Distribution)

• Kabuki Syndrome is a congenital condition that has an incidence of about 1 in 30,000. The condition is manifested at birth
• Both males and females are affected
• All racial and ethnic groups may be affected and the disorder is observed worldwide

What are the Risk Factors for Kabuki Syndrome? (Predisposing factors)

• A positive family history of Kabuki Syndrome is the only known risk factor for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Kabuki Syndrome? (Etiology)

• Kabuki Syndrome is a genetic disorder that may be inherited in an autosomal dominant pattern 
• In most cases (70%), it develops due to a mutation in the MLL2 gene, which is responsible for the production of a certain protein (found all over the body)
• Due to the abnormal mutations, the protein production is affected. This interrupts many complex chemical and biological processes, which results in the various signs and symptoms of Kabuki Syndrome
• A family history of the disorder is identified in some cases, while most cases occur as the result of new and spontaneous gene mutation with unknown cause

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Kabuki Syndrome?

Kabuki Syndrome manifests at birth and there may be a variety of signs and symptoms that affect many body parts and organs. These may be mild or severe and may include the following:

• Abnormal facial appearance with small head, wide eyebrows and curved eyelids (at the outer ends), large earlobes, cleft palate, and poorly-set teeth and dental profile
• Uniquely-shaped fingers and finger tips, very small ‘little finger’
• Bone joint abnormalities that affect the hip and knees; abnormally-shaped spine (scoliosis)
• Vision and hearing loss that may vary in severity
• Skeletal defects may result in short statured individuals
• Mental and physical growth delays

How is Kabuki Syndrome Diagnosed?

Kabuki Syndrome may be diagnosed using the following tools:

• Complete physical exam with evaluation of medical history (including family history)
• Radiographic studies of the affected region
• Neurological evaluation
• Genetic tests and analysis to detect mutations
• Prenatal exams include amniocentesis and chorionic villus sampling

Note: In order to establish a diagnosis, certain key features of Kabuki Syndrome have to be present.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Kabuki Syndrome?

Complications due to Kabuki Syndrome include:

• Intellectual disability, learning difficulties
• Heart abnormalities
• Recurrent ear infections (during infancy)
• Urinary tract defects
• Intestinal and kidney anomalies
• Weak muscle tone

How is Kabuki Syndrome Treated?

Kabuki Syndrome is incurable and the affected individual would require regular medical attention. The treatment is planned and provided to improve the quality of life, considering the specific conditions/complications that develop. It may include:

• Some of the physical defects may be corrected through surgical procedures (including for cardiac and other abnormalities)
• For improving motor skills and mental disabilities, special therapeutic treatment (by speech, physical, and occupational therapists) and supportive care is required
• Weak muscles, bone and muscle flexibility may be improved by providing orthopedic therapy
• Facial distortions and dental defects are corrected using cosmetic surgery and restorative dental treatment
• A few training methods used include social skills training and behavior modification therapy

How can Kabuki Syndrome be Prevented?

• Currently, there are no specific methods or guidelines to prevent Kabuki Syndrome, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Kabuki Syndrome
• Regular medical screening at periodic intervals with tests and physical examinations are mandatory

What is the Prognosis of Kabuki Syndrome? (Outcomes/Resolutions)

• Individuals with Kabuki Syndrome can lead a normal life; even though they may require regular medical attention and support, their lifespan is not affected
• With surgery and appropriate therapy sessions, internal organ defects can be resolved
• Obesity could lead to future adverse health conditions (related to the heart, diabetes), particularly after adolescence; thus, weight control is strictly advised

Additional and Relevant Useful Information for Kabuki Syndrome:

Kabuki is a traditional Japanese dance drama, in which the participants use elaborate cosmetics and facial makeup; some of the striking features of the syndrome resemble the face and eye makeup used in this dance form. Hence, it is termed Kabuki Syndrome.