Overview
Short stature-webbed neck-heart disease syndrome is an extremely rare genetic condition that shares some features with Turner syndrome and Noonan syndrome but is considered a distinct disorder. People with this condition are notably shorter than average, have a webbed neck (extra folds of skin stretching from the sides of the neck to the shoulders), and are born with heart defects. The heart problems most commonly involve the valves or the structure of the heart itself, such as pulmonary valve stenosis or other congenital heart malformations. Additional features may include a broad or shield-shaped chest, low-set ears, and subtle differences in facial appearance. Because this syndrome is so rare, the full range of symptoms and their severity can vary from person to person. There is currently no cure for this condition. Treatment focuses on managing individual symptoms, particularly the heart defects, which may require surgical correction or ongoing monitoring by a cardiologist. Growth hormone therapy may be considered to help with short stature, though its effectiveness in this specific syndrome is not well established. Regular follow-up with multiple specialists is important to address the various aspects of the condition and to ensure the best possible quality of life.
Also known as:
Key symptoms:
Short stature or growth delayWebbed neck with extra skin foldsCongenital heart defectsBroad or shield-shaped chestLow-set earsWide-spaced nipplesSwelling of the hands or feet at birthUnusual facial featuresDelayed puberty or hormonal differencesSkeletal abnormalitiesMild learning difficulties in some cases
Clinical phenotype terms (7)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Short stature-webbed neck-heart disease syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Short stature-webbed neck-heart disease syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Short stature-webbed neck-heart disease 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-webbed neck-heart disease syndrome.
Community
No community posts yet. Be the first to share your experience with Short stature-webbed neck-heart disease syndrome.
Start the conversation →Latest news about Short stature-webbed neck-heart disease syndrome
No recent news articles for Short stature-webbed neck-heart disease syndrome.
Follow this condition to be notified when news becomes available.
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 will it need surgery?,Should we consider growth hormone therapy, and what are the potential benefits and risks?,How often should my child have heart check-ups?,Are there any physical activities my child should avoid?,Should we pursue genetic testing to look for a specific cause?,What developmental or learning support services should we look into?,Are there any related conditions we should screen for over time?
Common questions about Short stature-webbed neck-heart disease syndrome
What is Short stature-webbed neck-heart disease syndrome?
Short stature-webbed neck-heart disease syndrome is an extremely rare genetic condition that shares some features with Turner syndrome and Noonan syndrome but is considered a distinct disorder. People with this condition are notably shorter than average, have a webbed neck (extra folds of skin stretching from the sides of the neck to the shoulders), and are born with heart defects. The heart problems most commonly involve the valves or the structure of the heart itself, such as pulmonary valve stenosis or other congenital heart malformations. Additional features may include a broad or shield-s
At what age does Short stature-webbed neck-heart disease syndrome typically begin?
Typical onset of Short stature-webbed neck-heart disease syndrome is neonatal. Age of onset can vary across affected individuals.