Frequently Asked Questions

Explore answers to some of the most frequently asked questions about Kabuki syndrome.

Please note that information provided is based on the available research, which may involve a limited number of participants due to the rare nature of the syndrome. As our understanding of Kabuki syndrome continues to evolve through research, we will update this page.

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Answers to Your Common Questions

The average age of walking without assistance was 20 months according to a 2005 study with 10 clinically diagnosed patients. [1] The range for the age of walking without assistance varies widely, and more research is needed to determine what the typical range is for people with a genetic diagnosis of Kabuki syndrome. Most people with Kabuki syndrome learn to walk independently.

Physical therapy and early intervention are recommended and can play an important role in helping individuals acquire and strengthen their motor skills. [2]

The average age of using single words was 21 months according to a 2005 study with 7 clinically diagnosed patients. [1] Most people with Kabuki syndrome will learn to speak in complete sentences. The range for the age of speaking varies widely, and more research is needed to determine what the typical range is for people with a genetic diagnosis of Kabuki syndrome.

Speech therapy, early intervention, and direct assessment of the mouth and palate are recommended. [2]

Approximately 70% of people with Kabuki syndrome experience hearing loss ranging from mild to severe, according to a 2024 study that examined hearing loss in 21 participants with a genetic diagnosis of Kabuki syndrome Type 1 (KMT2D). In this study, the average age of onset for hearing loss was 7 years old with a range from birth to 27 years old.  [1] 

Given the wide range in severity and age of onset, it is recommended that people with Kabuki syndrome test their hearing annually. [2]

Yes, approximately 70% of people with Kabuki syndrome have feeding problems. [1] Low muscle tone (hypotonia) and poor oromotor coordination (movements needed for sucking, chewing, swallowing, speaking) can contribute to the challenges. Feeding therapy, nutritional supplementation, or feeding tube placement may be needed. Many people with Kabuki syndrome also have gastroesophageal reflux which may require thickened meals or specific positioning after meals [2].

Individuals with Kabuki syndrome often experience elevated rates of anxiety, attention issues, obsessive-compulsive traits, and behaviors resembling autism. Despite exhibiting autistic-like behaviors, not all individuals with Kabuki syndrome qualify for an autism diagnosis. [1]

People with Kabuki syndrome have a very specific cognitive and behavioral profile. They generally fall in the mild intellectual disability range but some individuals are more or less severely impacted cognitively. Most have specific issues with visuospatial processing and memory, which become more apparent as they get older. [1]

Visuospatial or visual-spatial challenges are common in Kabuki syndrome and can affect learning, organization, reading comprehension, math, and movement. There is no direct treatment for visuospatial cognitive problems. Strengthening visuospatial skills is often a collaborative effort between caregivers, therapists, and teachers. You can learn more about how your/your child’s brain works through neuropsychological testing

In addition, we know people with Kabuki syndrome can have a problem with neurogenesis (making new brain cells) in the hippocampus of the brain. [2] This leads to a problem encoding new memories. Encoding means adding information into the memory for retrieval later. With a significant amount of repetition, children with Kabuki syndrome are able to encode new facts or processes. It is recommended that children with Kabuki syndrome be taught using a great deal of repetition in practicing their academic skills, even more than other children with intellectual disability. 

People with Kabuki syndrome are at higher risk of executive dysfunction. Executive function enables people to plan ahead, focus their attention, remember instructions, control their impulses and juggle multiple tasks successfully. They should be carefully monitored for signs of ADHD. Additionally, we are aware that most individuals with Kabuki syndrome have impairing anxiety and that this typically gets worse when they get older. In people with Kabuki syndrome, anxiety often looks like obsessive-compulsive tendencies, perseveration (repeating things again and again) and difficulty with uncertainty (changing of routines or expectations). [3, 4]

People with Kabuki syndrome are also at risk for significant fine motor challenges that can lead to difficulty with handwriting. Alternatives to handwritten work should be offered. Physical therapy and early intervention are recommended and can play an important role in helping individuals acquire and strengthen their motor skills. [5]

No, a person does not need to have all the symptoms listed to be diagnosed with Kabuki syndrome. The presence and severity of symptoms can vary widely from person to person.

Some people with Kabuki syndrome learn to drive but many do not. Six adults with Kabuki syndrome share their driving experiences in our recorded conference panel at minute 35:50.

Over half of people with Kabuki syndrome will develop a BMI that is categorized as overweight in middle childhood or adolescence, despite the majority of infants with Kabuki syndrome being diagnosed with failure to thrive. [1]

Yes, short stature is a common symptom of Kabuki syndrome. Approximately 80% of people with Kabuki syndrome show slower growth than their peers. [1]  The average height for adults with Kabuki syndrome is 4’10” (147.7 cm) for women and 5’3” (162.0 cm) for men. [2] You can access the growth charts for Kabuki syndrome Type 1 here. More research is needed for Type 2 growth charts.

Some children with Kabuki syndrome are prescribed growth hormone. Not all children who are prescribed growth hormone are growth hormone deficient. Studies [1,2] have shown people with Kabuki syndrome experienced catch-up growth, improvements in BMI, and improvements in joint laxity after treatment with growth hormone.

The ketogenic diet has been shown to improve neurological symptoms in animal models of Kabuki syndrome. The Modified Atkins diet is considered safer and is more easily tolerated than the full ketogenic diet. The effects of a Modified Atkins Diet are currently being evaluated in people with Kabuki syndrome in an early Phase 1 clinical trial by Dr. Jacqueline Harris at Kennedy Krieger Institute.

Due to the medical complexities of individuals with Kabuki syndrome, diet changes should only be explored under the care and direction of a medical provider. Researchers do not recommend exploring dietary changes unless under the direct supervision of a medical provider.

No, there is not a cure for Kabuki syndrome. Current treatment options for Kabuki syndrome focus on addressing symptoms as they present in an individual. There are no Kabuki syndrome specific treatments that address the root causes of the syndrome or related pathways.

Kabuki Syndrome Foundation is on a mission to find treatments that are specific and address the symptoms that impact our community the most. We’ve committed over $2 million to research so far to unlock treatments and brighter futures for everyone affected by Kabuki syndrome. 

Explore current research projects and clinical trials and contact us with any questions. 

Therapies often include speech, feeding, occupational, physical therapy, and sensory integration. [1] Early assessment and intervention is recommended to determine which therapies are most appropriate, as each person with Kabuki syndrome is unique. [2]

Other behavioral therapies, medical interventions, or surgical procedures may be recommended that are specific to the person with Kabuki syndrome and their symptoms.

People with Kabuki syndrome are recommended to have the following areas evaluated following diagnosis: growth, vision, hearing, musculoskeletal, palate (mouth structure), cardiac, respiratory, endocrine, immunology,  gastrointestinal/feeding, genitourinary (urinary and reproductive organs), neurologic, psychiatric/behavioral.  Evaluations by a genetic counselor and developmental pediatrician are also recommended. [1]

You can download this summary of recommended evaluations following diagnosis and ongoing surveillance of symptoms. This summary is intended to be provided to healthcare professionals for review and implementation, where appropriate. Additional diagnostic and management considerations can be found on GeneReviews.

People diagnosed with Kabuki syndrome are likely to live into adulthood, although heart problems, infections, renal failure or other medical challenges may impact life expectancy. [1] Early intervention, advancements in healthcare, and therapy can improve the quality of life for individuals with Kabuki syndrome. [2]

More research is needed to determine how Kabuki syndrome impacts life expectancy. A study at Boston Children’s Hospital is currently collecting records from bereaved families who have lost a loved one with Kabuki syndrome. [3]

Yes. For people with Kabuki syndrome Type 1 (KMT2D), the chance of passing on the KMT2D mutation is 50%. Women with Kabuki syndrome Type 2 (KDM6A) have a 50% chance of passing on the KDM6A mutation. There have been no documented cases of males with Kabuki syndrome Type 2 having children. A genetic counselor or a medical geneticist can provide you with personalized information and guidance based on your specific situation and family history. [1]

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