Overview
Martínez-Frías syndrome is an extremely rare condition present from birth that affects multiple organ systems, particularly the digestive (gastrointestinal) tract. It was first described by Dr. María Luisa Martínez-Frías. The hallmark of this syndrome is a combination of intestinal problems, including intestinal atresia (where parts of the intestine are blocked or missing) and other malformations of the digestive system. Babies born with this condition may also have abnormalities of the pancreas, gallbladder, and other abdominal organs. The condition can also be associated with features such as apple-peel type intestinal atresia, where the small bowel is shortened and coiled around its blood supply, along with pancreatic and biliary abnormalities. Because this syndrome affects the ability to absorb nutrients and digest food properly, affected newborns often present with feeding difficulties, vomiting, and failure to thrive shortly after birth. Surgical intervention is typically needed to correct the intestinal blockages. Long-term management focuses on nutritional support and monitoring for complications related to the gastrointestinal malformations. Due to the rarity of this condition, treatment is largely supportive and tailored to each patient's specific combination of malformations. The long-term outlook depends on the severity of the intestinal and organ involvement and how well surgical corrections restore digestive function.
Also known as:
Key symptoms:
Intestinal blockage present at birthShortened small intestineAbnormal coiling of the intestine (apple-peel intestinal atresia)Pancreas abnormalitiesGallbladder or bile duct malformationsFeeding difficulties in newbornsVomiting after feedingAbdominal swelling or distensionFailure to gain weight or grow properlyDifficulty absorbing nutrientsPossible liver abnormalities
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Martínez-Frías syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Martínez-Frías syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Martínez-Frías 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 Martínez-Frías 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.How much of my child's intestine is affected, and how much functional intestine remains?,Will my child need long-term intravenous nutrition, and what are the risks?,What surgeries will be needed, and what is the expected timeline?,Are there signs of pancreatic or liver involvement that need monitoring?,Should we pursue genetic testing, and what would the results mean for future pregnancies?,What is the long-term outlook for my child's growth and development?,Are there specialized centers with more experience treating this condition?
Common questions about Martínez-Frías syndrome
What is Martínez-Frías syndrome?
Martínez-Frías syndrome is an extremely rare condition present from birth that affects multiple organ systems, particularly the digestive (gastrointestinal) tract. It was first described by Dr. María Luisa Martínez-Frías. The hallmark of this syndrome is a combination of intestinal problems, including intestinal atresia (where parts of the intestine are blocked or missing) and other malformations of the digestive system. Babies born with this condition may also have abnormalities of the pancreas, gallbladder, and other abdominal organs. The condition can also be associated with features such a
How is Martínez-Frías syndrome inherited?
Martínez-Frías syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Martínez-Frías syndrome typically begin?
Typical onset of Martínez-Frías syndrome is neonatal. Age of onset can vary across affected individuals.