Overview
Familial intestinal malrotation is a rare inherited condition where the intestines do not rotate and settle into their normal position during fetal development. In a typical pregnancy, the intestines twist into place in a specific way before birth. In people with this condition, that rotation is incomplete or happens incorrectly, leaving the bowel in an unusual position inside the abdomen. This is sometimes called familial midgut malrotation or hereditary intestinal malrotation. Because the intestines are not anchored properly, they are at risk of twisting around themselves — a dangerous complication called volvulus. This can cut off the blood supply to the bowel and become a medical emergency. Symptoms can include vomiting (often with bile, which looks green or yellow), belly pain, bloating, and feeding difficulties. Some people have mild symptoms for years before a diagnosis is made, while others have a sudden, severe episode early in life. Treatment usually involves surgery called the Ladd procedure, which untwists the bowel, widens the attachment points, and removes the appendix to prevent future confusion with appendicitis. When caught early and treated promptly, many people do well after surgery. Because this condition runs in families, relatives of an affected person may also need to be checked.
Key symptoms:
Vomiting with green or yellow (bile-stained) fluidSevere or recurring belly painBloating or a swollen abdomenDifficulty feeding or poor weight gain in infantsConstipation or irregular bowel movementsDiarrheaFeeling full quickly when eatingNauseaBlood in the stool (in severe cases)Failure to thrive in babies and young children
Clinical phenotype terms (8)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Familial intestinal malrotation.
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Specialists
View all specialists →No specialists are currently listed for Familial intestinal malrotation.
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 Familial intestinal malrotation.
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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.Should my other children or close relatives be screened for intestinal malrotation, and how is that done?,What are the warning signs that the bowel has twisted, and what should I do if they happen?,Is genetic testing available to find the cause in our family?,What are the long-term risks after the Ladd procedure, and how often should we have follow-up appointments?,Are there any dietary changes that can help reduce symptoms or lower the risk of complications?,What should I tell other doctors or emergency room staff about this diagnosis?,Are there any clinical trials or research studies we could participate in?
Common questions about Familial intestinal malrotation
What is Familial intestinal malrotation?
Familial intestinal malrotation is a rare inherited condition where the intestines do not rotate and settle into their normal position during fetal development. In a typical pregnancy, the intestines twist into place in a specific way before birth. In people with this condition, that rotation is incomplete or happens incorrectly, leaving the bowel in an unusual position inside the abdomen. This is sometimes called familial midgut malrotation or hereditary intestinal malrotation. Because the intestines are not anchored properly, they are at risk of twisting around themselves — a dangerous comp
How is Familial intestinal malrotation inherited?
Familial intestinal malrotation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.