Overview
Short stature-valvular heart disease-characteristic facies syndrome is an extremely rare genetic condition that affects multiple parts of the body. People with this syndrome are notably shorter than average and have heart valve problems, which means the valves that control blood flow through the heart do not work properly. They also have distinctive facial features that doctors can recognize, sometimes described as a characteristic facial appearance. These facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other subtle differences in facial structure. Because the heart valves are affected, individuals may experience symptoms related to heart function such as heart murmurs, fatigue, or shortness of breath. The short stature is usually apparent from early childhood and may be one of the first signs that leads families to seek medical evaluation. Additional features can include skeletal abnormalities and other developmental differences. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, particularly monitoring and treating heart valve problems, supporting growth, and addressing any other medical issues that arise. Regular follow-up with a team of specialists is important to ensure the best possible quality of life.
Key symptoms:
Short stature or growth delayHeart valve problems (valvular heart disease)Distinctive facial featuresBroad foreheadWidely spaced eyesFlat nasal bridgeHeart murmurShortness of breath with activitySkeletal abnormalitiesFatigue or low energyDelayed growth milestones
Clinical phenotype terms (14)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Short stature-valvular heart disease-characteristic facies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Short stature-valvular heart disease-characteristic facies 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 Short stature-valvular heart disease-characteristic facies 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.How severe is my child's heart valve problem, and will it need surgery?,How often should we have cardiac check-ups and echocardiograms?,Are there any activity restrictions my child should follow?,Would growth hormone therapy be appropriate for my child?,Should we pursue genetic testing, and what type would be most helpful?,Are there any signs or symptoms I should watch for that would require emergency care?,Can you refer us to a genetic counselor to discuss family planning implications?
Common questions about Short stature-valvular heart disease-characteristic facies syndrome
What is Short stature-valvular heart disease-characteristic facies syndrome?
Short stature-valvular heart disease-characteristic facies syndrome is an extremely rare genetic condition that affects multiple parts of the body. People with this syndrome are notably shorter than average and have heart valve problems, which means the valves that control blood flow through the heart do not work properly. They also have distinctive facial features that doctors can recognize, sometimes described as a characteristic facial appearance. These facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other subtle differences in facial structure. B
How is Short stature-valvular heart disease-characteristic facies syndrome inherited?
Short stature-valvular heart disease-characteristic facies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Short stature-valvular heart disease-characteristic facies syndrome typically begin?
Typical onset of Short stature-valvular heart disease-characteristic facies syndrome is childhood. Age of onset can vary across affected individuals.