Overview
Congenital pulmonary airway malformation type 0 (CPAM type 0), also known as acinar dysplasia or acinar dysgenesis, is an extremely rare and severe lung developmental disorder present at birth. It is the rarest and most serious form of congenital pulmonary airway malformation (formerly called congenital cystic adenomatoid malformation or CCAM). In this condition, the lungs fail to develop properly during pregnancy, specifically affecting the smallest airways and air sacs (acini) throughout both lungs. The lung tissue is severely underdeveloped and cannot perform its essential job of exchanging oxygen and carbon dioxide. Babies born with CPAM type 0 typically present with severe respiratory failure immediately at birth. They are unable to breathe on their own and show signs of extreme breathing difficulty, including rapid breathing, blue or purple skin color (cyanosis), and very low oxygen levels. The condition affects both lungs diffusely, which distinguishes it from other CPAM types that may only affect one lobe or section of the lung. Unfortunately, CPAM type 0 is considered incompatible with life. Despite aggressive medical interventions including mechanical ventilation and intensive neonatal care, affected newborns typically do not survive beyond the first hours to days after birth. There is currently no effective treatment or cure for this condition. The diagnosis is often confirmed after birth through lung biopsy or autopsy, which shows characteristic changes in the lung tissue including the absence of normal acinar structures. Prenatal ultrasound may raise suspicion if the lungs appear abnormally bright (echogenic) or if there are signs of fetal distress, but definitive diagnosis before birth remains challenging.
Also known as:
Key symptoms:
Severe breathing failure at birthBlue or purple skin color from lack of oxygenInability to breathe without a machineVery low oxygen levels in the bloodRapid or labored breathingBoth lungs severely underdevelopedFailure to respond to breathing supportChest retractions (skin pulling in between ribs with each breath)Weak or absent cry
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 0.
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Specialists
View all specialists →No specialists are currently listed for Congenital pulmonary airway malformation type 0.
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 0.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How certain is the diagnosis of CPAM type 0, and what tests confirmed it?,Is there any chance this could be a different, more treatable type of CPAM?,What comfort care options are available for our baby?,Can we be connected with palliative care and bereavement support services?,Is genetic testing recommended for us as parents to understand the risk in future pregnancies?,Are there any research studies or registries we can participate in to help other families?,What support resources are available for our family, including siblings?
Common questions about Congenital pulmonary airway malformation type 0
What is Congenital pulmonary airway malformation type 0?
Congenital pulmonary airway malformation type 0 (CPAM type 0), also known as acinar dysplasia or acinar dysgenesis, is an extremely rare and severe lung developmental disorder present at birth. It is the rarest and most serious form of congenital pulmonary airway malformation (formerly called congenital cystic adenomatoid malformation or CCAM). In this condition, the lungs fail to develop properly during pregnancy, specifically affecting the smallest airways and air sacs (acini) throughout both lungs. The lung tissue is severely underdeveloped and cannot perform its essential job of exchanging
How is Congenital pulmonary airway malformation type 0 inherited?
Congenital pulmonary airway malformation type 0 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 0 typically begin?
Typical onset of Congenital pulmonary airway malformation type 0 is neonatal. Age of onset can vary across affected individuals.