Overview
Okamoto syndrome is an extremely rare condition that was first described in the medical literature and is characterized by a combination of birth defects affecting multiple body systems. The syndrome typically involves congenital heart defects, intellectual disability, distinctive facial features, and abnormalities of the hands and feet. Some patients may also have cleft palate, hearing loss, and growth delays. Because so few cases have been reported in the medical literature, our understanding of this condition remains limited. The facial features associated with Okamoto syndrome may include a broad nasal bridge, widely spaced eyes, and low-set ears. Heart defects can vary in type and severity but are a hallmark of the condition. Children with this syndrome often experience developmental delays, meaning they may take longer to reach milestones like sitting, walking, and talking. There is currently no cure for Okamoto syndrome. Treatment focuses on managing individual symptoms. Heart defects may require surgical correction, and children benefit from early intervention programs including speech therapy, physical therapy, and special education support. Regular follow-up with multiple specialists is important to monitor and address the various aspects of this condition.
Key symptoms:
Congenital heart defectsIntellectual disabilityDevelopmental delaysDistinctive facial featuresBroad nasal bridgeWidely spaced eyesLow-set earsCleft palateHearing lossAbnormalities of the hands and feetShort stature or growth delaysSpeech delays
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 Okamoto syndrome.
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Specialists
View all specialists →No specialists are currently listed for Okamoto 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 Okamoto syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 type of heart defect does my child have, and does it need surgery?,What developmental milestones should I watch for, and when should I be concerned?,Should my child have genetic testing, and what might it tell us?,What therapies and early intervention services do you recommend?,How often should my child see a cardiologist and other specialists?,Are there any activity restrictions my child should follow?,Are there any research studies or registries we can participate in?
Common questions about Okamoto syndrome
What is Okamoto syndrome?
Okamoto syndrome is an extremely rare condition that was first described in the medical literature and is characterized by a combination of birth defects affecting multiple body systems. The syndrome typically involves congenital heart defects, intellectual disability, distinctive facial features, and abnormalities of the hands and feet. Some patients may also have cleft palate, hearing loss, and growth delays. Because so few cases have been reported in the medical literature, our understanding of this condition remains limited. The facial features associated with Okamoto syndrome may include
How is Okamoto syndrome inherited?
Okamoto syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Okamoto syndrome typically begin?
Typical onset of Okamoto syndrome is neonatal. Age of onset can vary across affected individuals.