OBSOLETE: Congenital unilateral pulmonary hypoplasia

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ORPHA:2258
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Overview

Congenital unilateral pulmonary hypoplasia is a rare condition present from birth in which one lung does not develop fully. 'Unilateral' means only one side is affected, and 'hypoplasia' means the lung tissue is underdeveloped or smaller than normal. This condition may also be called one-sided lung underdevelopment or unilateral lung hypoplasia. The underdeveloped lung has fewer air sacs (alveoli) and smaller airways, which reduces its ability to exchange oxygen and carbon dioxide properly. Babies born with this condition may show signs of breathing difficulty right after birth, including rapid or labored breathing, low oxygen levels, and a bluish tint to the skin. The severity can vary widely — some children have mild symptoms and adapt reasonably well over time, while others face serious breathing challenges that require ongoing medical support. The heart and other chest structures may shift toward the smaller lung, which can sometimes cause additional complications. Treatment focuses on supporting breathing and managing symptoms rather than correcting the underlying lung development. This may include supplemental oxygen, mechanical ventilation in severe cases, and treatment of any related lung infections. As children grow, the remaining healthy lung can sometimes compensate by expanding. A team of specialists typically works together to monitor lung function and overall health throughout childhood and into adulthood.

Key symptoms:

Difficulty breathing, especially shortly after birthRapid or labored breathingBluish color of the skin or lips (cyanosis) due to low oxygenLow oxygen levels in the bloodReduced exercise tolerance or tiring easilyFrequent respiratory infections or pneumoniaChest that appears asymmetrical or unevenReduced breath sounds on the affected sidePersistent coughPoor weight gain or slow growth in infants

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Congenital unilateral pulmonary hypoplasia.

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No actively recruiting trials found for OBSOLETE: Congenital unilateral pulmonary hypoplasia at this time.

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No specialists are currently listed for OBSOLETE: Congenital unilateral pulmonary hypoplasia.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Congenital unilateral pulmonary hypoplasia.

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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.How severe is my child's lung underdevelopment, and what does that mean for their long-term health?,What signs should I watch for at home that would mean I need to call for emergency help?,Will my child's healthy lung be able to compensate and grow over time?,Are there any other conditions or birth defects I should be tested for that might be related to this?,What vaccinations are most important to protect my child's lungs?,Are there any restrictions on physical activity, and will those change as my child grows?,What specialists should be part of my child's care team, and how often should we have check-ups?

Common questions about OBSOLETE: Congenital unilateral pulmonary hypoplasia

What is OBSOLETE: Congenital unilateral pulmonary hypoplasia?

Congenital unilateral pulmonary hypoplasia is a rare condition present from birth in which one lung does not develop fully. 'Unilateral' means only one side is affected, and 'hypoplasia' means the lung tissue is underdeveloped or smaller than normal. This condition may also be called one-sided lung underdevelopment or unilateral lung hypoplasia. The underdeveloped lung has fewer air sacs (alveoli) and smaller airways, which reduces its ability to exchange oxygen and carbon dioxide properly. Babies born with this condition may show signs of breathing difficulty right after birth, including rap

How is OBSOLETE: Congenital unilateral pulmonary hypoplasia inherited?

OBSOLETE: Congenital unilateral pulmonary hypoplasia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Congenital unilateral pulmonary hypoplasia typically begin?

Typical onset of OBSOLETE: Congenital unilateral pulmonary hypoplasia is neonatal. Age of onset can vary across affected individuals.