Overview
Cystic fibrosis-gastritis-megaloblastic anemia syndrome is an extremely rare condition that combines features of three different medical problems. First, it involves cystic fibrosis-like symptoms, where thick, sticky mucus builds up in the lungs and digestive system, making it hard to breathe and digest food properly. Second, it includes gastritis, which is inflammation of the stomach lining that can cause stomach pain, nausea, and poor appetite. Third, it causes megaloblastic anemia, a type of blood disorder where the body makes abnormally large red blood cells that do not work properly, leading to fatigue, weakness, and pale skin. This syndrome appears to be inherited and affects multiple body systems at the same time. Children with this condition may show signs early in life, including frequent lung infections, poor growth, digestive problems, and symptoms of anemia. The combination of these three features in one patient is what distinguishes this syndrome from typical cystic fibrosis or other conditions. Because this syndrome is so rare, treatment is largely based on managing each component separately. Lung symptoms may be treated with airway clearance techniques, antibiotics, and mucus-thinning medications. Gastritis is managed with medications that reduce stomach acid and protect the stomach lining. Megaloblastic anemia is typically treated with vitamin B12 or folate supplements, depending on the underlying cause. Close monitoring by a team of specialists is essential for the best possible outcomes.
Also known as:
Key symptoms:
Frequent lung infectionsChronic cough with thick mucusDifficulty breathing or shortness of breathStomach pain or discomfortNausea or vomitingPoor appetiteFatigue and weaknessPale skinPoor weight gain or failure to thriveDiarrhea or greasy stoolsBloatingDelayed growth in children
Clinical phenotype terms (18)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Cystic fibrosis-gastritis-megaloblastic anemia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cystic fibrosis-gastritis-megaloblastic anemia 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 Cystic fibrosis-gastritis-megaloblastic anemia syndrome.
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.What specific tests will be done to confirm the diagnosis?,Should genetic testing be performed, and what might it reveal?,How will each part of the syndrome — the lung disease, stomach inflammation, and anemia — be treated?,How often will my child need blood tests and other monitoring?,Are there any dietary changes or supplements that could help?,What signs should I watch for that would require emergency care?,Are there any clinical trials or research studies we could participate in?
Common questions about Cystic fibrosis-gastritis-megaloblastic anemia syndrome
What is Cystic fibrosis-gastritis-megaloblastic anemia syndrome?
Cystic fibrosis-gastritis-megaloblastic anemia syndrome is an extremely rare condition that combines features of three different medical problems. First, it involves cystic fibrosis-like symptoms, where thick, sticky mucus builds up in the lungs and digestive system, making it hard to breathe and digest food properly. Second, it includes gastritis, which is inflammation of the stomach lining that can cause stomach pain, nausea, and poor appetite. Third, it causes megaloblastic anemia, a type of blood disorder where the body makes abnormally large red blood cells that do not work properly, lead
How is Cystic fibrosis-gastritis-megaloblastic anemia syndrome inherited?
Cystic fibrosis-gastritis-megaloblastic anemia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cystic fibrosis-gastritis-megaloblastic anemia syndrome typically begin?
Typical onset of Cystic fibrosis-gastritis-megaloblastic anemia syndrome is childhood. Age of onset can vary across affected individuals.