Overview
Familial intestinal malrotation-facial anomalies syndrome is an extremely rare condition that has been described in a very small number of families. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified, merged with another diagnosis, or found to not represent a distinct syndrome. The condition was originally described as a combination of intestinal malrotation (where the intestines do not develop in their normal position during fetal growth) along with unusual facial features that run in families. Intestinal malrotation means the bowel did not complete its normal rotation during early development in the womb. This can lead to serious problems such as bowel obstruction or twisting of the intestines (called volvulus), which can cut off blood supply and become a surgical emergency. The facial anomalies described in affected individuals varied but were noted to occur alongside the intestinal problems in multiple family members, suggesting a genetic cause. Because this condition is obsolete and was reported in very few cases, there is limited information about its exact genetic cause, long-term outlook, or specific treatments beyond surgical correction of the intestinal malrotation. Patients and families who were previously given this diagnosis should work with a clinical geneticist to determine whether a more current diagnosis or classification applies to their situation.
Also known as:
Key symptoms:
Intestines in the wrong position (intestinal malrotation)Twisting of the intestines (volvulus)Bowel obstructionVomiting, especially bile-stained (green) vomitingAbdominal pain or swellingUnusual facial featuresFeeding difficulties in infancyFailure to gain weight or grow properly
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 OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Familial intestinal malrotation-facial anomalies 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 OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Is this diagnosis still considered valid, or should we pursue updated genetic testing for a more current diagnosis?,What type of genetic testing would you recommend for our family?,What are the signs of a bowel emergency that we should watch for?,Will my child need additional surgeries beyond the initial intestinal correction?,Are there any dietary changes or nutritional supplements that could help?,What is the chance that future children in our family could be affected?,Should we see a craniofacial specialist for the facial features?
Common questions about OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome
What is OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome?
Familial intestinal malrotation-facial anomalies syndrome is an extremely rare condition that has been described in a very small number of families. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified, merged with another diagnosis, or found to not represent a distinct syndrome. The condition was originally described as a combination of intestinal malrotation (where the intestines do not develop in their normal position during fetal growth) along with unusual facial features that run in families. Intestinal malrotation means the bowel did
How is OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome inherited?
OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome typically begin?
Typical onset of OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome is neonatal. Age of onset can vary across affected individuals.