Frequently Asked Questions

Many people with Kabuki syndrome have mild to moderate developmental delays.  A 2022 study using caregiver reported data from a total of 57 participants summarized the average age of onset and range for various developmental milestones.

Early intervention therapies can play an important role in helping people with Kabuki syndrome reach developmental milestones.

The average age of walking without assistance was 2 years old according to a 2022 study that used caregiver reported data from 44 participants. [1] The range for the age of walking without assistance in this sample was 0-7 years old. Despite the wide range in the age people with Kabuki syndrome begin walking, most people with Kabuki syndrome learn to walk independently without assistance. 

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 learning to speak was 2 years old according to a 2022 study that used caregiver reported data from 42 participants. [1]  The range for beginning to speak in this sample was 0.4-5 years old. While many people with Kabuki syndrome have speech delays, most people with Kabuki syndrome will learn to speak in complete sentences.

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. You can be diagnosed through genetic testing or with a clinical diagnosis. Learn more about diagnosing Kabuki syndrome here.

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.

Drug repurposing is the process of developing existing drugs or supplements, many of which are already approved or have well-established safety profiles, for a new therapeutic use. Because these drugs have already undergone safety testing, this approach can be faster and less expensive than developing new drugs from scratch. 

For rare conditions like Kabuki syndrome, drug repurposing offers a promising path to potential therapies that could reach patients sooner.

The Kabuki Syndrome Foundation (KSF) is supporting two research projects that use drug repurposing to identify potential therapeutic candidates for our pipeline. At Boston Children’s Hospital, researchers are testing repurposed candidates that increase KMT2D or KDM6A in Kabuki syndrome cell lines and mouse models. At Unravel Biosciences, KSF is funding an AI-driven approach, using samples donated by individuals with Kabuki syndrome, to identify new therapeutic candidates.

These efforts reflect our commitment to accelerating research and bringing potential treatments to the Kabuki syndrome community as efficiently as possible. We look forward to sharing updates as promising candidates emerge from these studies.

Eligibility criteria are the guidelines that describe who can or cannot participate in a study. They help make sure the study is appropriate, safe and able to answer its research questions clearly.  Criteria may include factors like age ranges, genotype, language, or the ability to provide a control for the study.  

Not every study has the same criteria.  Criteria vary depending on the goals of the research, and meeting eligibility criteria does not guarantee enrollment.  Eligibility criteria are not meant to exclude people unnecessarily. Instead, they help make sure participants are a good fit for the study and that the results will be meaningful. In some cases, participants in one study may later be eligible for a subsequent study designed to build on earlier findings.

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. Please stay tuned for opportunities.

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]

Stored cord blood contains stem cells that can be a valuable resource for research. If you have stored cord blood from your child with Kabuki syndrome and are interested in donating it for research purposes, we would love to help.

Please reach out to us at research@kabukisyndromefoundation.org, and our team can connect you with a lab that is able to use your sample.

Your donation could help advance understanding and support the development of future treatments for Kabuki syndrome.