Overview
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic condition caused by changes (mutations) in the KAT6A or KAT6B genes. These genes play an important role in how the body reads and uses its DNA during development. When one of these genes does not work properly, it can affect brain development, facial features, and the heart. Children with this syndrome typically have intellectual disability that ranges from mild to severe, along with speech and language delays. Facial features may include a broad or prominent forehead, widely spaced eyes, a flat nasal bridge, a thin upper lip, and low-set or unusually shaped ears. Many children also have heart defects present at birth, such as holes between heart chambers or other structural problems. Other common features include low muscle tone (hypotonia), feeding difficulties in infancy, and delayed motor milestones like sitting and walking. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting development. This may include speech therapy, occupational therapy, physical therapy, special education services, and surgical repair of heart defects when needed. Early intervention programs can help children reach their full potential. Regular follow-up with a team of specialists is important to monitor growth, development, and any medical complications that may arise over time.
Also known as:
Key symptoms:
Intellectual disabilitySpeech and language delaysLow muscle tone (floppiness)Heart defects present at birthFeeding difficulties in infancyDelayed motor milestones like sitting and walkingBroad or prominent foreheadWidely spaced eyesFlat nasal bridgeThin upper lipLow-set or unusually shaped earsShort stature or slow growthBehavioral challengesRecurrent infectionsVision or eye problems
Clinical phenotype terms (39)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome.
Community
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Start the conversation →Latest news about KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic change does my child have, and how does it affect the expected course of the condition?,Does my child have any heart defects that need treatment or monitoring?,What therapies should we start right away, and how often should they occur?,Are there any clinical trials or research studies my child might be eligible for?,What developmental milestones should I watch for, and when should I be concerned?,How often should my child see each specialist, and what routine tests are recommended?,What is the chance of this condition occurring again in future pregnancies?
Common questions about KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
What is KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome?
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic condition caused by changes (mutations) in the KAT6A or KAT6B genes. These genes play an important role in how the body reads and uses its DNA during development. When one of these genes does not work properly, it can affect brain development, facial features, and the heart. Children with this syndrome typically have intellectual disability that ranges from mild to severe, along with speech and language delays. Facial features may include a broad or prominent forehead, widely spaced eyes, a
How is KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome inherited?
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome typically begin?
Typical onset of KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome is neonatal. Age of onset can vary across affected individuals.