Overview
Intermediate isolated anorectal malformation is a birth defect where the anus and rectum (the lower end of the digestive tract) do not develop properly. This condition is present at birth and is classified as 'intermediate' based on how high or low the abnormality sits in relation to surrounding muscles. The term 'OBSOLETE' in the disease name means that this specific classification is no longer widely used in modern medical practice. Current classification systems, such as the Krickenbeck classification, have replaced the older 'high, intermediate, and low' categories with more precise descriptions of the anatomy involved. In babies born with this condition, the opening of the anus may be missing, misplaced, or abnormally narrow. The rectum may end in a blind pouch or connect abnormally to other structures like the urinary tract or reproductive organs through passages called fistulas. Symptoms are usually noticed immediately at birth or within the first day of life when the baby cannot pass stool normally. Treatment almost always involves surgery to create or reconstruct a properly functioning anal opening. The specific surgical approach depends on the exact anatomy of the malformation. Many children go on to live healthy lives after surgery, though some may have ongoing challenges with bowel control. Long-term follow-up with specialists is important to manage any complications and support the child's quality of life.
Key symptoms:
Absent or missing anal opening at birthAnal opening in an abnormal positionInability to pass stool after birthSwollen or bloated belly in the newbornStool passing through an abnormal opening such as the urethra or vaginaNarrow anal openingDifficulty with bowel movementsConstipation after surgical repairFecal incontinence or soiling after surgeryAbnormal connection (fistula) between the rectum and urinary or reproductive tract
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: Intermediate isolated anorectal malformation.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Intermediate 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: Intermediate isolated anorectal malformation.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 is the exact type and level of my child's anorectal malformation?,Will my child need a colostomy before the main repair surgery?,What is the expected timeline for surgeries and recovery?,What are the chances my child will achieve full bowel control?,Should my child be tested for associated abnormalities in the spine, kidneys, or heart?,What bowel management program will my child need after surgery?,Are there any genetic tests recommended for our family?
Common questions about OBSOLETE: Intermediate isolated anorectal malformation
What is OBSOLETE: Intermediate isolated anorectal malformation?
Intermediate isolated anorectal malformation is a birth defect where the anus and rectum (the lower end of the digestive tract) do not develop properly. This condition is present at birth and is classified as 'intermediate' based on how high or low the abnormality sits in relation to surrounding muscles. The term 'OBSOLETE' in the disease name means that this specific classification is no longer widely used in modern medical practice. Current classification systems, such as the Krickenbeck classification, have replaced the older 'high, intermediate, and low' categories with more precise descri
At what age does OBSOLETE: Intermediate isolated anorectal malformation typically begin?
Typical onset of OBSOLETE: Intermediate isolated anorectal malformation is neonatal. Age of onset can vary across affected individuals.