Overview
Lung agenesis-heart defect-thumb anomalies syndrome is an extremely rare condition that affects multiple parts of the body during development before birth. This syndrome is characterized by three main features: the absence or incomplete development of one or both lungs (called lung agenesis or hypoplasia), heart defects present at birth (congenital heart defects), and abnormalities of the thumbs. The thumb problems can range from underdeveloped thumbs to absent or extra thumbs. Because the lungs and heart are both affected, babies born with this condition often have serious breathing difficulties and circulation problems from birth. This syndrome belongs to a group of conditions sometimes referred to as multiple congenital anomaly syndromes, meaning several body systems are affected at the same time. The combination of lung, heart, and thumb abnormalities together helps doctors distinguish this condition from other syndromes with overlapping features. Treatment is mainly supportive and depends on the severity of each individual's symptoms. Babies may need breathing support, heart surgery, or hand surgery depending on which features are present and how severe they are. Because so few cases have been reported in the medical literature, the full range of symptoms and the best treatment approaches are still being studied. Early diagnosis and a team of specialists are important for managing this complex condition.
Also known as:
Key symptoms:
Absence or underdevelopment of one or both lungsHeart defects present at birthAbnormal or missing thumbsBreathing difficulties from birthLow oxygen levels in the bloodBluish skin color due to poor oxygenationDifficulty feedingPoor weight gainAbnormal hand or finger appearancePossible rib or chest wall abnormalities
Clinical phenotype terms (27)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Lung agenesis-heart defect-thumb anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lung agenesis-heart defect-thumb anomalies 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 Lung agenesis-heart defect-thumb anomalies syndrome.
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Caregiver Resources
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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 lung involvement, and what does that mean for their breathing long-term?,What type of heart defect does my child have, and will surgery be needed?,Are there options for improving my child's thumb or hand function?,Should we pursue genetic testing, and what might it tell us?,What emergency signs should I watch for at home?,What is the expected long-term outlook for my child given their specific combination of symptoms?,Are there any clinical trials or research studies we should know about?
Common questions about Lung agenesis-heart defect-thumb anomalies syndrome
What is Lung agenesis-heart defect-thumb anomalies syndrome?
Lung agenesis-heart defect-thumb anomalies syndrome is an extremely rare condition that affects multiple parts of the body during development before birth. This syndrome is characterized by three main features: the absence or incomplete development of one or both lungs (called lung agenesis or hypoplasia), heart defects present at birth (congenital heart defects), and abnormalities of the thumbs. The thumb problems can range from underdeveloped thumbs to absent or extra thumbs. Because the lungs and heart are both affected, babies born with this condition often have serious breathing difficult
How is Lung agenesis-heart defect-thumb anomalies syndrome inherited?
Lung agenesis-heart defect-thumb anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lung agenesis-heart defect-thumb anomalies syndrome typically begin?
Typical onset of Lung agenesis-heart defect-thumb anomalies syndrome is neonatal. Age of onset can vary across affected individuals.