Japanese Kabuki Makeup Syndrome for Children Causes Signs and Quick Treatment

Kabuki Syndrome, also known as Japanese Makeup Syndrome, is a rare genetic condition that affects the facial features and appearance of children, characterized by distinct facial and skin signs. Despite its rarity, recognizing the early symptoms and understanding its causes is crucial for parents, as it helps ensure early diagnosis and proper care. In this Daleeli Medical article, we will cover everything about Kabuki Syndrome in children: its causes, symptoms, diagnostic methods, medical and surgical treatments, and practical tips for daily care of affected children, all explained in a simple and easy-to-understand way.

What is Kabuki Syndrome in Children?

Kabuki Syndrome is a rare genetic condition that affects a child’s body and facial features. Most children with the syndrome show distinctive facial characteristics, some minor skeletal abnormalities, and sometimes developmental delays or intellectual disability.

The syndrome was first identified by Japanese researchers in 1981. It was initially called “Kabuki Makeup Syndrome” because some affected children’s facial features resembled the makeup of Kabuki theater performers in traditional Japanese theater. Later, the official name became Kabuki Syndrome.

The condition may also be known by other names, including:

Kabuki Disease
KMS
Niikawa-Kuroki Syndrome

Life Expectancy of People with Kabuki Syndrome

Kabuki Syndrome is rare and genetic, and its severity varies from child to child. Early treatment of symptoms plays a crucial role in improving a child’s quality of life.

Some adults with the syndrome live relatively normal lives and can perform daily activities and work part-time. Ongoing medical care and support are usually needed.

Because the syndrome is rare, precise data on life expectancy is limited, so it is important to consult your child’s healthcare provider for individualized guidance.

Who Can Have Kabuki Syndrome?

Kabuki Syndrome can affect anyone regardless of race or gender. Although first discovered in Japan, it has now been diagnosed in people of various ethnicities worldwide.

Long-Term Outlook

The prognosis varies significantly depending on symptom severity and treatment effectiveness. Early diagnosis and regular medical follow-up can help a child or adult with Kabuki Syndrome live a stable and satisfying life despite the challenges.

Family Support and Support Groups

Many organizations and support groups provide valuable resources and guidance for families affected by Kabuki Syndrome. Connecting with other families allows for sharing experiences, emotional support, and practical advice for managing challenges.

How to Support a Child with Kabuki Syndrome

Supporting a child with Kabuki Syndrome requires a safe, encouraging environment and attention to their individual needs:

Provide regular medical care and monitor symptoms and complications.
Ensure the child receives treatment for all health issues related to the syndrome.
Support learning and education with appropriate tools and a supportive school environment.
Encourage social and emotional growth through daily activities and peer interaction.

What to Do if You Suspect Your Child Has Kabuki Syndrome

Consult a healthcare provider for a comprehensive evaluation.
You may be referred to a genetic specialist for necessary testing to confirm the diagnosis.

Can Adults Have Kabuki Syndrome?

Yes, the syndrome is lifelong. It is usually diagnosed in childhood, but adults with Kabuki Syndrome may experience similar symptoms and health complications, requiring ongoing medical follow-up and support.

When to Seek Urgent Medical Help

Seek immediate medical care if your child has:

Severe feeding or swallowing difficulties
Persistent high fever or signs of severe infection
Sudden changes in behavior or daily activity
Any concerning health symptoms that require urgent attention

Stages of Kabuki Syndrome in Children

Kabuki Syndrome is a chronic genetic condition, and its symptoms appear gradually as the child grows:

1️⃣ Neonatal Stage (Birth to 1 year)

Distinctive facial features: wide eyes, arched eyebrows, low-set ears, thin upper lip
Growth: low birth weight or mild growth delay
Possible health issues: heart, liver, or kidney problems
Daily challenges: feeding or sleep difficulties

2️⃣ Early Childhood (1–5 years)

Delayed motor and cognitive development: delays in walking, talking, or fine motor skills
Feeding and digestion problems: difficulty eating or poor nutrient absorption
Dental and hearing issues: missing or irregular teeth, mild hearing loss

3️⃣ Middle Childhood (6–10 years)

Learning and cognitive challenges: school difficulties, especially in language and focus
Behavioral and social problems: anxiety, shyness, or difficulty interacting with peers
Physical growth issues: short stature, weak muscles, occasional joint problems
Ongoing medical monitoring: heart, liver, and kidney checks based on each child’s needs

4️⃣ Adolescence (11–18 years)

Delayed puberty or sexual development: mild delays in secondary sexual characteristics
Bone and joint issues: bowed legs or spine problems in some cases
Continued educational and behavioral support: to address learning and behavioral challenges

5️⃣ Youth and Beyond

Most physical symptoms persist, but some cognitive and social abilities improve with proper support
Continuous medical follow-up: heart, liver, kidney, and dental care
Psychological and social support: crucial for daily life, education, and employment

Causes and Risk Factors of Kabuki Syndrome in Children

1️⃣ Infectious or Environmental Causes
There is currently no evidence that infections or environmental factors directly cause Kabuki Syndrome. The condition is primarily genetic, though environmental factors can influence general health.

2️⃣ Genetic and Immune Causes

Often caused by mutations in the KMT2D gene, which regulates gene expression during development
Sometimes caused by mutations in KDM6A, located on the X chromosome
Mutations can be inherited or occur spontaneously (de novo mutation)
The syndrome follows an autosomal dominant pattern, meaning a single mutated gene can cause the condition

3️⃣ Lifestyle and Nutrition
Lifestyle does not cause the syndrome but can improve overall health. A balanced diet, physical activity, and a supportive environment help manage symptoms and enhance well-being.

4️⃣ Main Risk Factors

Age: present at birth and often diagnosed in infancy or early childhood
Gender: affects both boys and girls; some studies suggest slightly higher prevalence in boys
Geography: first identified in Japan but occurs worldwide
Family history: increases risk if there is a history of genetic disorders

Types of Kabuki Syndrome in Children

1️⃣ Type 1 (Kabuki Syndrome 1 – KMT2D mutation)

Most common
Symptoms: distinctive facial features, growth delays, mild immune weakness, mild to moderate heart problems

2️⃣ Type 2 (Kabuki Syndrome 2 – KDM6A mutation)

Usually affects boys more than girls
Symptoms: similar facial and physical features as Type 1, often with more severe cognitive and behavioral challenges, and occasionally heart, liver, or kidney problems

3️⃣ Rare or Unspecified Types

Some children show symptoms without clear mutations in KMT2D or KDM6A
Can be de novo mutations or linked to other rare genes
Symptoms vary widely

Diagnosis of Kabuki Syndrome in Children

1️⃣ Clinical Evaluation

Comprehensive physical examination and medical history
Assessment of facial features and skeletal abnormalities

2️⃣ Diagnostic Tests

Genetic testing: confirms mutations in KMT2D or KDM6A
Imaging studies: X-rays, ultrasound, MRI to assess skeletal or internal organ issues
Blood tests: evaluate overall health and detect associated conditions

3️⃣ Differential Diagnosis
Important to distinguish Kabuki Syndrome from similar genetic disorders, such as:

Turner Syndrome
Noonan Syndrome
Williams Syndrome

4️⃣ Specialist Consultation
A geneticist or specialist in genetic disorders usually confirms the diagnosis.

Symptoms of Kabuki Syndrome in Children

Kabuki Syndrome is a rare genetic condition. Symptoms may be present at birth or appear gradually as the child grows. Severity varies among children and can affect multiple organs and body systems.

Kabuki Syndrome in Children: Features, Risks, and Management

1️⃣ Distinctive Facial Features

Abnormal slits between the eyelids and arched eyebrows.
Short distance between the nose and upper lip with a flat nose.
Large, prominent, or cupped ears.
Long, thick eyelashes and bluish spots on the sclera (white of the eye).
Strabismus (crossed eyes) or cleft lip/palate.
Small jaw and a dimple near the ear.
Dental issues such as widely spaced or missing teeth.

2️⃣ Skeletal and Muscular Abnormalities

Spinal deformities such as scoliosis or kyphosis.
Short fingers or inward-tilted fifth finger.
Presence of fleshy pads at fingertip ends.
Loose joints and hypermobility.
Skull abnormalities.

3️⃣ Cognitive and Behavioral Development

Mild to moderate intellectual disability.
Postnatal growth delays.
Behavioral issues such as ADHD, self-harming behaviors, sleep disorders, and autism.
Some children may experience:
- Obsessive-compulsive tendencies
- Sensory sensitivity (to smells, noise, or textures)
- Oral stimulation needs (e.g., chewing non-food items)
- Mild depression

4️⃣ Growth and Digestive Problems

Feeding difficulties, poor sucking, or swallowing problems.
Malabsorption of nutrients and gastroesophageal reflux.
Short stature.

5️⃣ Other Health Issues

Recurrent infections (ear, sinus, lungs).
Hearing loss.
Kidney problems or immunodeficiency.
Heart defects.
Low blood sugar after birth.
Sometimes early signs of puberty.

⚠️ Important Note: Symptoms vary from child to child. Some may show more or fewer signs, so medical diagnosis and follow-up are essential.

Risks and Complications of Kabuki Syndrome in Children

Kabuki Syndrome can affect multiple body systems. Key risks include:

1️⃣ Impact on Physical Growth

Short stature and delayed physical growth.
Muscle weakness and occasional mobility difficulties.
Joint and bone problems, e.g., bowed legs or spinal deformities.

2️⃣ Cardiovascular Issues

Some children have congenital heart defects.
Risk of high blood pressure or impaired blood flow with age.
Regular monitoring is crucial to prevent severe complications.

3️⃣ Liver and Kidney Issues

Mild dysfunction or organ problems may occur.
Severe cases may require medical intervention or continuous monitoring.

4️⃣ Reproductive System Effects

Delayed puberty or underdeveloped secondary sexual characteristics.
Potential fertility issues in some cases.

5️⃣ Cognitive and Educational Impact

Learning and attention difficulties, especially in language and academic skills.
Some children may need special education or speech therapy.

6️⃣ Psychological and Behavioral Effects

Anxiety, shyness, or social interaction challenges.
Feelings of isolation or difficulty relating to peers due to physical differences.
Continuous psychological and social support helps build self-confidence.

7️⃣ Dental and Oral Problems

Missing or irregular teeth.
Jaw growth issues or dental misalignment, possibly requiring orthodontic treatment.

⚠️ Note: Complications vary depending on the severity of the syndrome. Regular medical follow-up helps reduce risks and improve quality of life.

Medical Treatment for Kabuki Syndrome in Children

There is no cure for Kabuki Syndrome, but medications help manage symptoms and complications:

1️⃣ Supporting Physical Growth

Growth hormone therapy: For children with short stature or growth delays.
Regular monitoring of height and weight to assess treatment response.

2️⃣ Cardiovascular Management

Heart or blood pressure medications: To manage congenital heart defects or support heart function.
Regular check-ups to adjust doses as needed.

3️⃣ Liver and Kidney Support

Medications to support liver or kidney function if mild dysfunction exists.
Routine lab tests to prevent future complications.

4️⃣ Reproductive and Hormonal Management

Hormone therapy for delayed puberty or secondary sexual development issues.
Close supervision by a pediatric endocrinologist.

5️⃣ Cognitive and Learning Support

Attention-enhancing medications if severe difficulties exist.
Educational and occupational therapy to improve cognitive and mental skills.

6️⃣ Psychological and Behavioral Support

Mild anti-anxiety or behavioral medications if needed, with ongoing psychological follow-up.
Behavioral therapy and social support are critical to enhance adaptation and self-confidence.

⚠️ Important: All medications must be under pediatric specialist supervision, with regular follow-up for optimal outcomes.

Surgery and Laser Treatment for Kabuki Syndrome

Surgery and laser therapy address physical abnormalities or congenital defects, not the syndrome itself.

1️⃣ Surgical Treatments

Correcting congenital defects:
- Heart: Surgery may improve heart function and circulation.
- Bones and joints: Correct finger or limb deformities to improve mobility and appearance.
- Face and jaw: Surgery can improve chewing, speech, and smile in children with facial or palate abnormalities.
Rare cases: Liver or kidney surgery if severe complications occur (very uncommon).

2️⃣ Laser Treatments

Skin changes: Remove scars or pigmentation caused by deformities or injuries.
Cosmetic improvement: Reduce visible skin differences to boost the child’s self-esteem.

⚠️ Important Notes:

Surgery and laser are only for complications or cosmetic improvements, not for curing the disease.
All interventions must be supervised by pediatric and specialized surgeons.
Most children improve significantly with medical management and supportive care alone.

Tips for Managing Kabuki Syndrome in Children

Support involves continuous medical care and comprehensive management:

1️⃣ Regular Medical Follow-up

Keep all appointments with pediatricians and specialists (surgery, heart, orthopedics, dermatology).
Monitor growth regularly (height and weight).
Conduct routine tests for heart, kidneys, liver, and eyes as advised.

2️⃣ Nutrition Care

Provide healthy, balanced meals to support growth.
Focus on proteins, vegetables, fruits, vitamins, and essential minerals.
Avoid excessive sugar or fast food that may cause obesity or additional health issues.

3️⃣ Psychological and Social Support

Encourage self-confidence and social participation.
Involve family in daily activities to increase security.
Join parent or child support groups for guidance and shared experiences.

4️⃣ Managing Physical Deformities

Explain the condition to the child in simple terms to reduce fear or anxiety.
Use surgery or physical therapy when needed to improve mobility or appearance.
Follow post-surgery therapy to strengthen muscles and enhance movement.

5️⃣ Skin and Dental Care

Clean skin gently to prevent infections.
Regular dental follow-ups, as some children may have oral or dental problems.

6️⃣ Supporting Learning and Skills

Provide school support with educational tools if there are learning difficulties.
Break tasks into short periods to facilitate concentration and learning.

7️⃣ Preventing Infections and Complications

Maintain hand and personal hygiene.
Monitor for new symptoms (fever, extreme fatigue, skin or heart changes) and contact a doctor immediately.

Long-Term Effects of Kabuki Syndrome in Children

Kabuki Syndrome affects children differently. Some experience limited issues, while others face long-term impacts:

1️⃣ Physical Growth and Motor Delays

Short stature or below-average weight.
Delays in walking or running due to weak muscles or joint deformities.

2️⃣ Cardiovascular Impact

Congenital heart defects may require ongoing monitoring or surgery.
Untreated heart problems may limit normal physical activity.

3️⃣ Vision and Hearing Problems

Eye issues: strabismus, blurred vision, or light sensitivity.
Hearing loss or recurrent ear infections affecting learning and communication.

4️⃣ Cognitive and Behavioral Effects

Delayed mental development or learning difficulties.
Behavioral and social challenges: poor concentration, hyperactivity, or difficulty interacting with peers.