Overview
Heart defects-limb shortening syndrome is an extremely rare condition present from birth that combines structural problems of the heart with shortened limbs (arms and/or legs). This syndrome may also be referred to by its Orphanet designation (ORPHA:1354). Babies born with this condition typically have congenital heart defects, which can range from holes between heart chambers to more complex structural abnormalities, along with noticeably shorter arms or legs due to abnormal bone growth. The limb shortening can affect the long bones of the upper limbs, lower limbs, or both, and may be accompanied by other skeletal abnormalities. Because this syndrome is so rare, medical knowledge about it is limited and based on very few reported cases in the medical literature. The severity of symptoms can vary from person to person. Heart defects may cause problems with blood flow and oxygen delivery, leading to symptoms such as bluish skin color, difficulty breathing, poor feeding, and failure to thrive in infancy. The limb shortening may affect mobility and physical development as the child grows. Treatment is focused on managing the individual symptoms. Heart defects may require surgical repair or catheter-based procedures, depending on their type and severity. Orthopedic care may be needed to address limb and skeletal issues. Because so few cases have been described, there is no standardized treatment protocol, and care is typically coordinated by a team of specialists who tailor the approach to each patient's specific needs.
Key symptoms:
Congenital heart defects (structural heart problems present at birth)Shortened arms or legsAbnormal bone developmentBluish skin color due to low oxygenDifficulty breathingPoor feeding in infancyFailure to thrive or slow growthReduced mobilityShort staturePossible additional skeletal abnormalities
Clinical phenotype terms (14)— hover any for plain English
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Heart defects-limb shortening syndrome.
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Specialists
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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 Heart defects-limb shortening syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of heart defect does my child have, and how severe is it?,Will my child need heart surgery, and if so, when is the best time?,What is the expected impact on my child's growth and development?,Should we pursue genetic testing to look for an underlying cause?,What therapies or support services should we start now?,Are there any activity restrictions my child should follow?,Is there a risk that future children could have the same condition?
Common questions about Heart defects-limb shortening syndrome
What is Heart defects-limb shortening syndrome?
Heart defects-limb shortening syndrome is an extremely rare condition present from birth that combines structural problems of the heart with shortened limbs (arms and/or legs). This syndrome may also be referred to by its Orphanet designation (ORPHA:1354). Babies born with this condition typically have congenital heart defects, which can range from holes between heart chambers to more complex structural abnormalities, along with noticeably shorter arms or legs due to abnormal bone growth. The limb shortening can affect the long bones of the upper limbs, lower limbs, or both, and may be accompa
At what age does Heart defects-limb shortening syndrome typically begin?
Typical onset of Heart defects-limb shortening syndrome is neonatal. Age of onset can vary across affected individuals.