Overview
Congenital pulmonary airway malformation type 2 (CPAM type 2), also known as congenital cystic adenomatoid malformation type 2 (CCAM type 2), is a rare lung condition that is present from birth. It occurs when a section of the lung does not develop normally during pregnancy, forming multiple small cysts (fluid or air-filled sacs) that are typically between 0.5 and 2 centimeters in size. These abnormal cysts replace normal lung tissue and can interfere with breathing. CPAM type 2 is one of five recognized types of congenital pulmonary airway malformations. Type 2 accounts for roughly 15-20% of all CPAM cases. It is notable because it is more commonly associated with other birth defects than other CPAM types, particularly kidney abnormalities, heart defects, and skeletal problems. Some babies may also have a condition called extralobar sequestration, where an extra piece of lung tissue develops outside the normal lung. Many cases are now detected before birth through routine prenatal ultrasound. After birth, symptoms can range from none at all to significant breathing difficulty, depending on the size and location of the malformation. Some babies may experience respiratory distress shortly after delivery, while others may not show symptoms until later in infancy or childhood, sometimes presenting with recurrent lung infections. The primary treatment is surgical removal of the affected portion of the lung, which is often curative. The overall outlook depends on the size of the malformation, whether other birth defects are present, and how early the condition is identified and treated.
Also known as:
Key symptoms:
Breathing difficulty at birth or shortly afterRapid breathingBluish skin color due to low oxygenRecurrent lung infections or pneumoniaCoughingFeeding difficulties in infantsPoor weight gain or failure to thriveChest wall asymmetryWheezingNo symptoms at all in mild casesAssociated kidney abnormalitiesAssociated heart defectsAssociated skeletal abnormalities
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital pulmonary airway malformation type 2.
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Specialists
View all specialists →No specialists are currently listed for Congenital pulmonary airway malformation type 2.
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 Congenital pulmonary airway malformation type 2.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 large is the malformation, and where exactly is it located in my child's lung?,Does my child have any other birth defects that are associated with CPAM type 2?,When do you recommend surgery, and what type of surgery would be performed?,What are the risks and benefits of surgery versus watchful waiting?,What kind of long-term follow-up will my child need after surgery?,Will my child's lung function be normal after the affected area is removed?,Is there any risk that this condition could come back or affect future pregnancies?
Common questions about Congenital pulmonary airway malformation type 2
What is Congenital pulmonary airway malformation type 2?
Congenital pulmonary airway malformation type 2 (CPAM type 2), also known as congenital cystic adenomatoid malformation type 2 (CCAM type 2), is a rare lung condition that is present from birth. It occurs when a section of the lung does not develop normally during pregnancy, forming multiple small cysts (fluid or air-filled sacs) that are typically between 0.5 and 2 centimeters in size. These abnormal cysts replace normal lung tissue and can interfere with breathing. CPAM type 2 is one of five recognized types of congenital pulmonary airway malformations. Type 2 accounts for roughly 15-20% of
How is Congenital pulmonary airway malformation type 2 inherited?
Congenital pulmonary airway malformation type 2 follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital pulmonary airway malformation type 2 typically begin?
Typical onset of Congenital pulmonary airway malformation type 2 is neonatal. Age of onset can vary across affected individuals.