Communicating congenital bronchopulmonary-foregut malformation

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Overview

Communicating congenital bronchopulmonary-foregut malformation is a very rare birth defect in which abnormal lung tissue or a cystic mass in the chest has an open connection (communication) with part of the digestive tract, most commonly the esophagus or stomach. During early development in the womb, the lungs and the digestive tube (foregut) develop from the same tissue. In this condition, something goes wrong during that separation, leaving a persistent channel between the airway or lung tissue and the gastrointestinal tract. This can lead to repeated lung infections, breathing difficulties, feeding problems, and sometimes coughing or choking during meals because food or stomach contents can pass into the lungs through the abnormal connection. Symptoms often appear in the newborn period or early infancy, though milder forms may not be detected until later in childhood. Babies may have trouble breathing, recurrent pneumonia, or persistent cough. Some children may fail to gain weight properly because of feeding difficulties. Treatment is almost always surgical. The goal of surgery is to remove the abnormal lung tissue and close the connection to the digestive tract. When diagnosed and treated early, outcomes are generally good. The condition is sometimes grouped with other bronchopulmonary-foregut malformations such as bronchogenic cysts, pulmonary sequestrations, and congenital cystic adenomatoid malformations. Other names include communicating bronchopulmonary foregut malformation or bronchopulmonary-foregut communication.

Key symptoms:

Repeated lung infections or pneumoniaDifficulty breathing or respiratory distressPersistent coughChoking or coughing during feedingPoor weight gain or failure to thriveWheezingFever from lung infectionsSpitting up or vomitingBluish skin color from low oxygenChest pain or discomfort in older childrenAbnormal sounds heard in the chest

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 Communicating congenital bronchopulmonary-foregut malformation.

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No actively recruiting trials found for Communicating congenital bronchopulmonary-foregut malformation at this time.

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No specialists are currently listed for Communicating congenital bronchopulmonary-foregut malformation.

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 Communicating congenital bronchopulmonary-foregut malformation.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What type of connection exists between my child's lung and digestive tract, and how severe is it?,When is the best time to perform surgery, and what surgical approach will be used?,What are the risks of surgery, and what is the expected recovery time?,Are there any other birth defects or conditions we should screen for?,What signs of complications should I watch for before and after surgery?,What kind of long-term follow-up will my child need after surgery?,Will my child have normal lung function and be able to participate in sports and physical activities?

Common questions about Communicating congenital bronchopulmonary-foregut malformation

What is Communicating congenital bronchopulmonary-foregut malformation?

Communicating congenital bronchopulmonary-foregut malformation is a very rare birth defect in which abnormal lung tissue or a cystic mass in the chest has an open connection (communication) with part of the digestive tract, most commonly the esophagus or stomach. During early development in the womb, the lungs and the digestive tube (foregut) develop from the same tissue. In this condition, something goes wrong during that separation, leaving a persistent channel between the airway or lung tissue and the gastrointestinal tract. This can lead to repeated lung infections, breathing difficulties,

How is Communicating congenital bronchopulmonary-foregut malformation inherited?

Communicating congenital bronchopulmonary-foregut malformation follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Communicating congenital bronchopulmonary-foregut malformation typically begin?

Typical onset of Communicating congenital bronchopulmonary-foregut malformation is neonatal. Age of onset can vary across affected individuals.