Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation on Kabuki syndrome is limited due to its rarity, affecting fewer than 10,000 individuals in the U.S. This low prevalence restricts the number of systematic clinical studies and comprehensive characterizations. Additionally, the genetic basis was only recently identified, and ongoing research is needed to better understand the full spectrum of clinical features associated with this condition.
To navigate your care effectively, consider seeking a geneticist or a specialist in congenital anomalies who can provide insights into the genetic aspects of Kabuki syndrome. You may also benefit from connecting with patient organizations such as All Things Kabuki (https://allthingskabuki.org) and Supporting Aussie Kids with Kabuki Syndrome (https://sakks.org), which offer resources and community support. Additionally, inquire about opportunities for genetic counseling to discuss potential testing for KMT2D and KDM6A variants, as well as participation in patient registries or natural history studies.
Currently, there is one orphan drug designated for Kabuki syndrome, Dabrafenib, which is under development. There are also two active clinical trials focused on this condition, which can provide opportunities for patients to participate in research and potentially access new therapies. For more information on these trials, you can visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=Kabuki%20syndrome.
Actionable guidance for navigating care for Kabuki syndrome
To navigate your care effectively, consider seeking a geneticist or a specialist in congenital anomalies who can provide insights into the genetic aspects of Kabuki syndrome. You may also benefit from connecting with patient organizations such as All Things Kabuki (https://allthingskabuki.org) and Supporting Aussie Kids with Kabuki Syndrome (https://sakks.org), which offer resources and community support. Additionally, inquire about opportunities for genetic counseling to discuss potential testing for KMT2D and KDM6A variants, as well as participation in patient registries or natural history studies.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Kabuki syndrome community
Helpful links for rare disease information and support
Documentation on Kabuki syndrome is limited due to its rarity, affecting fewer than 10,000 individuals in the U.S. This low prevalence restricts the number of systematic clinical studies and comprehensive characterizations. Additionally, the genetic basis was only recently identified, and ongoing research is needed to better understand the full spectrum of clinical features associated with this condition.
To navigate your care effectively, consider seeking a geneticist or a specialist in congenital anomalies who can provide insights into the genetic aspects of Kabuki syndrome. You may also benefit from connecting with patient organizations such as All Things Kabuki (https://allthingskabuki.org) and Supporting Aussie Kids with Kabuki Syndrome (https://sakks.org), which offer resources and community support. Additionally, inquire about opportunities for genetic counseling to discuss potential testing for KMT2D and KDM6A variants, as well as participation in patient registries or natural history studies.
Currently, there is one orphan drug designated for Kabuki syndrome, Dabrafenib, which is under development. There are also two active clinical trials focused on this condition, which can provide opportunities for patients to participate in research and potentially access new therapies. For more information on these trials, you can visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=Kabuki%20syndrome.
Actionable guidance for navigating care for Kabuki syndrome
To navigate your care effectively, consider seeking a geneticist or a specialist in congenital anomalies who can provide insights into the genetic aspects of Kabuki syndrome. You may also benefit from connecting with patient organizations such as All Things Kabuki (https://allthingskabuki.org) and Supporting Aussie Kids with Kabuki Syndrome (https://sakks.org), which offer resources and community support. Additionally, inquire about opportunities for genetic counseling to discuss potential testing for KMT2D and KDM6A variants, as well as participation in patient registries or natural history studies.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Kabuki syndrome community
Helpful links for rare disease information and support
Documentation on Kabuki syndrome is limited due to its rarity, affecting fewer than 10,000 individuals in the U.S. This low prevalence restricts the number of systematic clinical studies and comprehensive characterizations. Additionally, the genetic basis was only recently identified, and ongoing research is needed to better understand the full spectrum of clinical features associated with this condition.
To navigate your care effectively, consider seeking a geneticist or a specialist in congenital anomalies who can provide insights into the genetic aspects of Kabuki syndrome. You may also benefit from connecting with patient organizations such as All Things Kabuki (https://allthingskabuki.org) and Supporting Aussie Kids with Kabuki Syndrome (https://sakks.org), which offer resources and community support. Additionally, inquire about opportunities for genetic counseling to discuss potential testing for KMT2D and KDM6A variants, as well as participation in patient registries or natural history studies.
Currently, there is one orphan drug designated for Kabuki syndrome, Dabrafenib, which is under development. There are also two active clinical trials focused on this condition, which can provide opportunities for patients to participate in research and potentially access new therapies. For more information on these trials, you can visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=Kabuki%20syndrome.
Actionable guidance for navigating care for Kabuki syndrome
To navigate your care effectively, consider seeking a geneticist or a specialist in congenital anomalies who can provide insights into the genetic aspects of Kabuki syndrome. You may also benefit from connecting with patient organizations such as All Things Kabuki (https://allthingskabuki.org) and Supporting Aussie Kids with Kabuki Syndrome (https://sakks.org), which offer resources and community support. Additionally, inquire about opportunities for genetic counseling to discuss potential testing for KMT2D and KDM6A variants, as well as participation in patient registries or natural history studies.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Kabuki syndrome community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.