Overview
Shoulder and thorax deformity-congenital heart disease syndrome is an extremely rare condition that combines skeletal abnormalities of the shoulder and chest area with heart defects that are present from birth. This syndrome is sometimes referred to by its Orphanet designation (ORPHA:1940) and has been described in only a very small number of individuals in the medical literature. Affected individuals typically show abnormal development of the shoulder bones (such as the scapula and clavicle), chest wall deformities (like an unusually shaped ribcage or sternum), and one or more structural heart problems that develop before birth. The heart defects can range in severity and may include holes between heart chambers or abnormalities of the heart valves. Because so few cases have been reported, the full spectrum of features and the underlying cause of this syndrome are not yet well understood. Treatment is generally focused on managing symptoms, particularly addressing the heart defects, which may require surgical correction, and monitoring skeletal development. Orthopedic care may be needed for shoulder and chest abnormalities that affect function or breathing. Genetic counseling is recommended for affected families to better understand recurrence risks.
Key symptoms:
Abnormally shaped or positioned shoulder bladesChest wall deformityCongenital heart defectAbnormal collarbone developmentRib abnormalitiesLimited shoulder movementBreathing difficulties in some casesAsymmetry of the upper bodyHeart murmur detected at birthPossible feeding difficulties in infancy
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Shoulder and thorax deformity-congenital heart disease syndrome.
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Specialists
View all specialists →No specialists are currently listed for Shoulder and thorax deformity-congenital 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 Shoulder and thorax deformity-congenital heart disease 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 how severe is it?,Will my child need heart surgery, and if so, when?,How will the shoulder and chest abnormalities affect my child's growth and development?,Are there any activity restrictions my child should follow?,Should we pursue genetic testing to look for an underlying cause?,What is the chance this condition could occur again in future pregnancies?,What specialists should be part of my child's care team?
Common questions about Shoulder and thorax deformity-congenital heart disease syndrome
What is Shoulder and thorax deformity-congenital heart disease syndrome?
Shoulder and thorax deformity-congenital heart disease syndrome is an extremely rare condition that combines skeletal abnormalities of the shoulder and chest area with heart defects that are present from birth. This syndrome is sometimes referred to by its Orphanet designation (ORPHA:1940) and has been described in only a very small number of individuals in the medical literature. Affected individuals typically show abnormal development of the shoulder bones (such as the scapula and clavicle), chest wall deformities (like an unusually shaped ribcage or sternum), and one or more structural hear
At what age does Shoulder and thorax deformity-congenital heart disease syndrome typically begin?
Typical onset of Shoulder and thorax deformity-congenital heart disease syndrome is neonatal. Age of onset can vary across affected individuals.