Kabuki Syndrome Care in Grand Rapids, Michigan

Kabuki syndrome is a rare genetic disorder that can affect many parts of the body, including growth, learning, facial features, and the skeleton. It is estimated to occur in about 1 in every 32,000 births, but experts believe it is underdiagnosed, so the true number may be higher—even in a mid-sized city like Grand Rapids.

Families in Grand Rapids, MI can access specialized care for Kabuki syndrome through major health systems such as Corewell Health (formerly Spectrum Health), Trinity Health Grand Rapids, University of Michigan Health–West (Metro Health), and Mercy Health. These systems often collaborate with regional and national genetics centers to support children and adults with rare conditions.

What Is Kabuki Syndrome?

Kabuki syndrome (also called Niikawa–Kuroki syndrome) is a genetic condition that affects both males and females equally. It is lifelong and there is currently no cure, but many symptoms can be managed with coordinated medical and developmental care.

People with Kabuki syndrome can have a wide range of features and health issues. Not everyone has the same symptoms, and the severity can vary from mild to more complex.

Common Features of Kabuki Syndrome

Distinctive Facial Features

Many children with Kabuki syndrome share certain facial characteristics, which can help doctors recognize the condition. These may include:

  • Widely spaced eyes
  • Long or prominent eyelid openings
  • Exaggerated arch of the eyebrows
  • Flattened tip of the nose
  • Low‑set or prominent ears
  • A very high-arched palate or cleft palate
  • Full or everted lower lip

These features often become more noticeable over time, which can delay diagnosis in infancy.

Developmental and Learning Differences

Kabuki syndrome is often associated with:

  • Intellectual disability (ranging from mild to severe)
  • Developmental delays (for example, sitting, walking, or talking later than peers)
  • Speech and language difficulties
  • Learning challenges that may require special education services

Families in Grand Rapids can work with local early intervention and school-based programs, as well as pediatric specialists at Corewell Health and Trinity Health Grand Rapids, to create individualized education plans (IEPs).

Growth and Skeletal Differences

Common physical and skeletal features include:

  • Short stature
  • Short fingers or toes
  • Lax (loose) joints and joint hypermobility
  • Skeletal abnormalities such as scoliosis (curvature of the spine)
  • Small head size (microcephaly) in some children

Orthopedic specialists in Grand Rapids, including those at Helen DeVos Children’s Hospital (Corewell Health), can evaluate and manage scoliosis and joint problems.

Other Health Problems Associated With Kabuki Syndrome

Children and adults with Kabuki syndrome may have additional medical issues that require ongoing care:

Heart (Cardiac) Problems

  • Coarctation (narrowing) of the aorta
  • Ventricular septal defect (VSD) – a hole between the lower heart chambers
  • Atrial septal defect (ASD) – a hole between the upper heart chambers

Pediatric cardiology services in Grand Rapids are available through major health systems to diagnose and treat these conditions, often soon after birth.

Immune System and Blood Disorders

  • Immune system dysfunction
  • Autoimmune conditions such as idiopathic thrombocytopenic purpura (ITP), a bleeding disorder that affects platelets

Because Michigan winters bring frequent respiratory infections and flu, children with immune problems may need extra monitoring and vaccinations, coordinated with their Grand Rapids pediatrician and immunology specialists.

Hearing, Vision, and Dental Issues

  • Recurrent middle ear infections and hearing loss
  • Eye problems such as drooping eyelid (ptosis) or strabismus (crossed eyes)
  • Dental problems, including missing or misshapen teeth

Local pediatric ENT (ear, nose, and throat), ophthalmology, and pediatric dental specialists in Grand Rapids can help manage these issues with regular check-ups and appropriate treatments.

Kidney and Genitourinary Problems

  • Kidney abnormalities
  • Undescended testicles in boys

These may be evaluated by pediatric nephrologists and urologists in the Grand Rapids area.

Neurologic and Behavioral Concerns

  • Epilepsy or seizure disorders
  • Behavioral challenges (such as attention difficulties or anxiety)
  • Early puberty in some children

Neurology and behavioral health services are available through Grand Rapids hospital systems and community mental health providers.

Causes of Kabuki Syndrome

Kabuki syndrome is usually caused by a change (mutation) in certain genes involved in development:

  • KMT2D gene (formerly called MLL2) – the most common cause
  • KDM6A gene – a less common cause

Everyone has two copies of these genes. Kabuki syndrome typically occurs when only one copy of one of these genes is changed. This is known as an autosomal dominant inheritance pattern.

However, in most children, Kabuki syndrome results from a new genetic change (a “de novo” mutation) that was not inherited from either parent. In some families, the gene change can be passed from parent to child.

Not all children with suspected Kabuki syndrome will have an identifiable change in KMT2D or KDM6A with current testing, but genetic testing continues to improve.

How Kabuki Syndrome Is Diagnosed in Grand Rapids

Kabuki syndrome can be challenging to diagnose for several reasons:

  • Each child presents with a slightly different combination of features
  • Some features develop gradually and may not be obvious at birth
  • Many doctors may not be familiar with Kabuki syndrome because it is so rare

Clinical Evaluation

A clinical geneticist or pediatric specialist usually makes the diagnosis based on:

  • Distinctive facial features
  • Growth pattern
  • Skeletal findings
  • Developmental history
  • Other associated medical issues (such as heart defects or immune problems)

Families in Grand Rapids may be referred to regional or state genetics clinics through:

  • Corewell Health / Helen DeVos Children’s Hospital
  • Trinity Health Grand Rapids
  • University of Michigan Health–West (Metro Health)
  • Genetic counseling services coordinated with the Genetic Support Network of Michigan

Genetic Testing

Genetic testing can confirm the diagnosis by identifying a change in:

  • KMT2D
  • KDM6A (less common)

This testing is usually arranged by a geneticist or genetic counselor and may be done through specialized laboratories. Results can help guide long-term care and family planning decisions.

Treatment and Management of Kabuki Syndrome

Kabuki syndrome is permanent, and there is no cure, but many symptoms can be treated or supported. The goal is to reduce complications and improve quality of life.

In Grand Rapids, a multidisciplinary team approach is common, involving pediatricians, specialists, therapists, and school services.

Medical and Surgical Treatments

Depending on the child’s needs, treatment may include:

  • Heart surgery to correct structural heart defects
  • Surgical repair of cleft palate or other craniofacial anomalies
  • Orthopedic treatment for scoliosis and joint laxity
  • Medication to control seizures in children with epilepsy
  • Restorative and cosmetic dental care for missing or misshapen teeth
  • Regular eye exams and treatment for vision problems
  • Cosmetic surgery, for example, to pin back prominent ears if desired

These services are available through major Grand Rapids hospital systems and specialty clinics.

Therapies and Developmental Support

Early and ongoing therapies are important to help children reach their full potential:

  • Physical therapy – to strengthen muscles, improve balance, and support mobility
  • Occupational therapy – to improve fine motor skills and daily living activities
  • Speech therapy – to support speech, language, and feeding/swallowing issues
  • Sign language or augmentative communication – when speech is significantly delayed
  • Social skills training – to help with peer relationships
  • Behavior modification therapy – to address behavioral challenges
  • Special education services – individualized plans through local Grand Rapids schools

Michigan’s early intervention programs and Grand Rapids Public Schools can coordinate evaluations and services for children with developmental delays and disabilities.

Weight Management and Long-Term Health

Many individuals with Kabuki syndrome experience substantial weight gain during adolescence or adulthood. This can increase the risk of:

  • Obesity
  • Cardiovascular disease
  • Type 2 diabetes
  • Joint problems

In West Michigan, where winters can be long and cold, outdoor activity may be limited for part of the year. Families can work with pediatricians, nutritionists, and physical therapists in Grand Rapids to:

  • Develop healthy eating plans
  • Encourage year-round physical activity (indoor sports, adaptive recreation, community programs)
  • Monitor blood pressure, cholesterol, and blood sugar as children grow older

Regular check-ups with a Grand Rapids primary care provider or pediatrician are important to watch for these issues early.

Long-Term Outlook for Kabuki Syndrome

Although Kabuki syndrome is lifelong, many individuals can:

  • Learn to manage daily activities
  • Participate in school and community life
  • Work in part-time or supported employment as adults

Studies suggest that people with Kabuki syndrome may have a normal life span, but they are likely to have ongoing medical needs that require regular follow-up.

Key considerations include:

  • Continued monitoring of heart, kidney, and immune function
  • Support for learning and employment
  • Ongoing therapies for mobility, communication, and daily living skills
  • Mental health support for anxiety, depression, or social challenges

Grand Rapids families can work closely with local health systems and community organizations to build a long-term care plan.

Genetic Counseling for Kabuki Syndrome in Grand Rapids, MI

If your child or another family member has Kabuki syndrome—or if it runs in your family—genetic counseling can be very helpful.

What Genetic Counselors Do

Genetic counselors are trained in both genetics and counseling. They can:

  • Explain what Kabuki syndrome is and what causes it
  • Discuss how it is inherited and the chances of it occurring in future pregnancies
  • Review genetic testing options for you and other family members
  • Help you understand what a diagnosis means for your child’s health and development
  • Provide emotional support and resources tailored to your family’s culture, beliefs, and circumstances

You may choose to see a genetic counselor if:

  • Your child has been diagnosed with Kabuki syndrome
  • Kabuki syndrome or a related genetic condition runs in your family
  • You are planning a pregnancy and want to understand your risks
  • You are considering prenatal or preconception genetic testing

Local and Statewide Resources

Families in Grand Rapids can access genetic counseling and support through:

  • Corewell Health / Helen DeVos Children’s Hospital – Pediatric and adult genetics services
  • Trinity Health Grand Rapids – Maternal-fetal medicine and genetics referrals
  • University of Michigan Health–West (Metro Health) – Specialty referrals and coordination
  • Genetic Support Network of Michigan (GSNM) – Statewide support, information, and advocacy for families with genetic conditions
  • Kent County Health Department and Grand Rapids Public Health – Information on local public health programs and referrals
  • National organizations such as Genetic Alliance and rare disease networks

Contact your Grand Rapids primary care provider or pediatrician for referrals to local genetics services and support networks.

Where to Get Help in Grand Rapids, Michigan

If you are concerned about Kabuki syndrome or your child has been diagnosed, consider reaching out to:

  • Your GP or pediatrician in Grand Rapids
  • Pediatric specialists (cardiology, neurology, orthopedics, ENT, ophthalmology) through:
    • Corewell Health / Helen DeVos Children’s Hospital
    • Trinity Health Grand Rapids
    • University of Michigan Health–West (Metro Health)
    • Mercy Health
  • Genetic counseling services available through major hospital systems
  • Genetic Support Network of Michigan (GSNM) – for information, peer support, and advocacy
  • Kent County Health Department – for public health resources and connections to local services

Key Points About Kabuki Syndrome in Grand Rapids

  • Kabuki syndrome is a rare genetic disorder that may be underdiagnosed, including in West Michigan.
  • It affects both males and females and causes a range of physical, developmental, and medical issues.
  • Diagnosis is based on clinical features and genetic testing (KMT2D, KDM6A).
  • Treatment focuses on managing symptoms, preventing complications, and improving quality of life through medical care and therapies.
  • Weight management and regular health monitoring are important, especially during adolescence and adulthood.
  • Grand Rapids families have access to comprehensive care, including genetics, specialty care, therapies, and educational support.
  • Genetic counseling can help families understand the condition, inheritance, and testing options, and connect with local and state resources.