Overview
Low isolated anorectal malformation is a birth defect that affects the lower end of the digestive tract, specifically the anus and rectum. In this condition, the opening where stool normally exits the body (the anus) does not form correctly during development in the womb. The term 'low' refers to the fact that the malformation is located close to the skin surface, meaning the rectum ends near where the anus should be, rather than higher up in the pelvis. This is generally considered a less severe form of anorectal malformation compared to 'high' types. Note that this specific Orphanet classification (171215) is now marked as obsolete, meaning it has been reclassified or merged into broader categories of anorectal malformations. Babies with this condition are typically diagnosed at birth or shortly after when doctors notice that the anal opening is absent, narrowed, or in an abnormal position. Some babies may have a small opening called a fistula that connects the rectum to the skin near where the anus should be, or to nearby structures. Common types of low anorectal malformations include perineal fistula and anterior ectopic anus. Surgery is the main treatment, and because the rectum is close to the skin surface, the surgical repair tends to be more straightforward than for higher malformations. Most children with low anorectal malformations have good outcomes after surgery, with many achieving normal or near-normal bowel control over time. However, some children may experience ongoing issues with constipation or occasional soiling that require long-term management.
Key symptoms:
Absent or missing anal opening at birthAnal opening in an abnormal positionNarrowed anal openingSmall opening (fistula) near where the anus should beInability to pass stool normally after birthSwollen belly in newbornsStool passing through an abnormal openingConstipation after surgical repairOccasional soiling or stool leakage after repairDifficulty with toilet training
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Low isolated anorectal malformation.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Low isolated anorectal malformation at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Low isolated anorectal malformation.
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: Low isolated anorectal malformation.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Low isolated anorectal malformation.
Start the conversation →Latest news about OBSOLETE: Low isolated anorectal malformation
No recent news articles for OBSOLETE: Low isolated anorectal malformation.
Follow this condition to be notified when news becomes available.
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 type of low anorectal malformation does my child have?,What surgical approach do you recommend, and what is the expected recovery time?,How do I perform anal dilations at home, and for how long will they be needed?,What are the chances my child will have normal bowel control after surgery?,Should my child be tested for any associated birth defects or genetic conditions?,What bowel management strategies should we use if constipation or soiling occurs?,How often will my child need follow-up visits, and for how many years?
Common questions about OBSOLETE: Low isolated anorectal malformation
What is OBSOLETE: Low isolated anorectal malformation?
Low isolated anorectal malformation is a birth defect that affects the lower end of the digestive tract, specifically the anus and rectum. In this condition, the opening where stool normally exits the body (the anus) does not form correctly during development in the womb. The term 'low' refers to the fact that the malformation is located close to the skin surface, meaning the rectum ends near where the anus should be, rather than higher up in the pelvis. This is generally considered a less severe form of anorectal malformation compared to 'high' types. Note that this specific Orphanet classifi
At what age does OBSOLETE: Low isolated anorectal malformation typically begin?
Typical onset of OBSOLETE: Low isolated anorectal malformation is neonatal. Age of onset can vary across affected individuals.