Question 1

What is Kabuki syndrome 2?

Accepted Answer

Kabuki syndrome 2 is an inherited condition that impacts multiple aspects of development, manifesting in distinctive facial features and growth challenges. It is caused by pathogenic variants in the KDM6A gene, which plays a key role in regulating gene expression during early development. The condition follows an X‐linked dominant inheritance pattern, with most cases arising from de novo variants, meaning there is usually no family history. While precise prevalence data are not available, Kabuki syndrome 2 is recognized as a multi-system condition with symptoms evident from early childhood.

Question 2

What are the symptoms of Kabuki syndrome 2?

Accepted Answer

Individuals with Kabuki syndrome 2 generally present with a characteristic set of clinical features. Nearly all affected persons exhibit prominent fingertip pads, areolar fullness, postnatal growth retardation, long palpebral fissures, and global developmental delay with associated intellectual disability. Additional common findings include short stature, and many experience macrotia, eversion of the lateral third of the lower eyelids, feeding difficulties in infancy, joint hypermobility, and seizures, among other features. The cognitive and developmental challenges often require early intervention, and families benefit from a multidisciplinary approach to address both physical and neurological aspects. Not all individuals experience all features, and severity varies considerably.

Question 3

What causes Kabuki syndrome 2?

Accepted Answer

Kabuki syndrome 2 is caused by variants in the KDM6A gene, a gene that is integral to chromatin remodeling and proper regulation of gene expression during development. The condition is inherited in an X‐linked dominant pattern, and most cases arise from de novo pathogenic variants, meaning that there is typically no family history of the condition. Females are most commonly affected, while affected males may experience more severe manifestations. Given these inheritance dynamics, affected individuals who reproduce have a risk of passing on the variant, and families are encouraged to pursue genetic counseling to better understand recurrence risks and reproductive options. Associated genes include KDM6A.

Question 4

How is Kabuki syndrome 2 inherited?

Accepted Answer

Kabuki syndrome 2 follows an X-linked inheritance pattern. Because the gene is located on the X chromosome, the condition may affect males and females differently.

Question 5

How is Kabuki syndrome 2 diagnosed?

Accepted Answer

Diagnosis of Kabuki syndrome 2 is primarily based on a careful clinical evaluation supported by molecular genetic testing. Identification of pathogenic variants in the KDM6A gene confirms the diagnosis, particularly in the context of clinical features such as global developmental delay, intellectual disability, distinct facial features, and growth retardation. Because many of these signs can overlap with other conditions, genetic testing is essential to establish a definitive diagnosis and guide management.

Question 6

Are there treatments for Kabuki syndrome 2?

Accepted Answer

Currently, management of Kabuki syndrome 2 focuses on supportive care and symptom management, as no treatments are specifically approved for this condition. Treatment is highly individualized and typically involves a multidisciplinary team that may include developmental pediatricians, neurologists, and therapists, among others. Interventions such as physical therapy, occupational therapy, and specialized educational support are common to address motor and cognitive challenges. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become more serious. Genetic counseling is also recommended to discuss treatment options and inheritance implications, ensuring that each patient receives care tailored to their specific needs.

Question 7

Are there clinical trials for Kabuki syndrome 2?

Accepted Answer

Yes, there is currently 1 active clinical trial for Kabuki syndrome 2 registered on ClinicalTrials.gov. Clinical trials test new treatments, procedures, or approaches. Your healthcare provider can help determine if a trial might be appropriate for your situation. Visit the Treatment section of this page for more details.

Question 8

What are the potential complications associated with Kabuki syndrome 2?

Accepted Answer

Individuals with Kabuki syndrome 2 may face various complications due to their developmental challenges. These can include issues related to intellectual disability, growth retardation, and feeding difficulties in infancy. Regular surveillance is important to identify and manage these complications early, ensuring that individuals receive the necessary support throughout their lives.

Question 9

How does Kabuki syndrome 2 affect daily life and management for families?

Accepted Answer

Families managing Kabuki syndrome 2 often need to adopt a multidisciplinary approach to care. This may involve working with developmental pediatricians, neurologists, and various therapists to address the unique challenges their child faces. Early intervention services, such as physical and occupational therapy, can be crucial in helping children develop essential skills and improve their quality of life.

Question 10

What is the prognosis for individuals with Kabuki syndrome 2?

Accepted Answer

The prognosis for individuals with Kabuki syndrome 2 can vary widely based on the severity of their symptoms and the timing of their diagnosis. Many individuals continue to progress and develop skills over time, although they may face lifelong challenges related to intellectual disability and developmental delay. With appropriate care and support, families can help optimize long-term outcomes for their loved ones.

Question 11

What specialists should families consult for managing Kabuki syndrome 2?

Accepted Answer

Families dealing with Kabuki syndrome 2 are encouraged to consult a team of specialists for comprehensive care. This team may include developmental pediatricians, neurologists, and therapists who can provide tailored interventions for both physical and cognitive challenges. Genetic counseling is also recommended to discuss inheritance implications and support family planning decisions.

System/Concern	Evaluation	Comment
Growth	Measurement of height, weight, head circumference	Consider plotting growth on KMT2D-related KS-specific growth charts.1; Growth restriction poor weight gain are common sequela of feeding difficulties.
Ophthalmologic	Ophthalmology eval	For assessment of strabismus, refractive error, ptosis, corneal abnormalities
Hearing	Baseline audiology eval	To assess for conductive /or sensorineural hearing loss
Mouth	Directed evaluation of the palate for palatal anomalies	Consider referral to a craniofacial specialist if palatal anomalies are suspected. Consider dental eval for those age 3 yrs.
Cardiac	Echocardiogram w/visualization of the aortic arch	To assess for congenital heart defects incl coarctation of the aorta Consider EKG.
Respiratory	Consider chest radiographs to assess for diaphragmatic eventuation.	In those w/respiratory issues, chronic cough, or recurrent pneumonia Gastrointestinal/
Feeding	Assess nutritional status, feeding, GERD.	Consider assessment by feeding team /or VFSS for those w/suspected dysphagia.; Infants may have FTT; adolescents adults may have obesity.
Genitourinary	Baseline kidney ultrasound	To evaluate for kidney anomalies hydronephrosis Physical exam for hypospadias /or cryptorchidism in males
Musculoskeletal	Consider radiographs of the spine in those w/scoliosis.	To assess for vertebral anomalies
Endocrinologic	Consider obtaining baseline glucose level in persons of any age.	To assess for hypoglycemia; if identified, further eval for hyperinsulinism may be considered.2 In neonates infants w/persistent hypoglycemia, assess for hyperinsulinism.3
Immunologic	T cell count, T cell subsets, serum immunoglobulin levels at time of diagnosis or at age 1 yr (whichever is later)	Refer to immunologist if:; Levels are abnormal; or; Person has history of recurrent infections.
Neurologic	EEG	In those w/suspected seizures Head MRI
Neurobehavioral/Psychiatric	Neuropsychiatric eval	Screen persons age 12 mos for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD. Miscellaneous/
Other	Developmental assessment	Evaluate motor, speech-language, general cognitive, vocational skills.

Kisho

Kabuki syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Growth

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

CHARGE syndrome

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.

Kabuki syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Kabuki syndrome 2?

What are the symptoms of Kabuki syndrome 2?

What causes Kabuki syndrome 2?

How is Kabuki syndrome 2 inherited?

How is Kabuki syndrome 2 diagnosed?

Are there treatments for Kabuki syndrome 2?

Are there clinical trials for Kabuki syndrome 2?

What are the potential complications associated with Kabuki syndrome 2?

How does Kabuki syndrome 2 affect daily life and management for families?

What is the prognosis for individuals with Kabuki syndrome 2?

What specialists should families consult for managing Kabuki syndrome 2?

Clinical Guidance

Growth

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

CHARGE syndrome

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.