Overview
Subaortic stenosis-short stature syndrome is an extremely rare genetic condition that combines a heart defect called subaortic stenosis with noticeably short stature (height well below average). Subaortic stenosis means there is a narrowing just below the aortic valve in the heart, which makes it harder for the heart to pump blood out to the body. This can lead to symptoms such as shortness of breath, chest pain, fainting, and heart murmurs. The short stature component means that affected individuals are significantly shorter than expected for their age and family background. This syndrome falls under a group of conditions classified as multiple congenital anomaly syndromes. In addition to the heart and growth problems, some patients may have other features such as distinctive facial characteristics and skeletal abnormalities. The condition is present from birth, though some features may become more apparent as a child grows. Treatment is mainly focused on managing symptoms. The heart narrowing may require monitoring by a cardiologist, and in some cases surgical intervention may be needed to relieve the obstruction. Growth hormone evaluation and supportive care for short stature may also be considered. Because this syndrome is so rare, management is typically individualized and involves a team of specialists working together to address each patient's specific needs.
Also known as:
Key symptoms:
Short stature or growth delayHeart murmurNarrowing below the aortic valve in the heartShortness of breath, especially with exerciseFainting or dizzinessChest pain during physical activityFatigue or low energyDistinctive facial featuresSkeletal abnormalitiesDelayed growth milestones
Clinical phenotype terms (26)— 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 Subaortic stenosis-short stature syndrome.
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Specialists
View all specialists →No specialists are currently listed for Subaortic stenosis-short stature 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 Subaortic stenosis-short stature syndrome.
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Caregiver Resources
NORD Caregiver Resources
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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.How severe is the subaortic stenosis, and does it need treatment now?,How often should we have echocardiograms to monitor the heart?,Are there any physical activities or sports that should be avoided?,Would growth hormone therapy be appropriate for the short stature?,Should we pursue genetic testing, and what might it tell us?,What signs should prompt us to seek emergency care?,Is antibiotic prophylaxis needed before dental or surgical procedures?
Common questions about Subaortic stenosis-short stature syndrome
What is Subaortic stenosis-short stature syndrome?
Subaortic stenosis-short stature syndrome is an extremely rare genetic condition that combines a heart defect called subaortic stenosis with noticeably short stature (height well below average). Subaortic stenosis means there is a narrowing just below the aortic valve in the heart, which makes it harder for the heart to pump blood out to the body. This can lead to symptoms such as shortness of breath, chest pain, fainting, and heart murmurs. The short stature component means that affected individuals are significantly shorter than expected for their age and family background. This syndrome fa
How is Subaortic stenosis-short stature syndrome inherited?
Subaortic stenosis-short stature syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Subaortic stenosis-short stature syndrome typically begin?
Typical onset of Subaortic stenosis-short stature syndrome is childhood. Age of onset can vary across affected individuals.