Overview
Isolated rectal duplication is a rare congenital malformation in which an additional tubular or cystic structure lined by intestinal mucosa is found adjacent to the rectum, without other associated gastrointestinal duplications or systemic anomalies. It belongs to the broader category of alimentary tract duplications but is distinguished by its isolated occurrence in the rectal region. The duplicated segment typically shares a common muscular wall or blood supply with the native rectum and may be located in the presacral or retrorectal space. Clinical presentation varies depending on the size and type of the duplication. Many cases are detected in infancy or early childhood, though some remain asymptomatic until later in life. Key symptoms may include rectal bleeding, constipation, recurrent perianal or pelvic infections, a palpable presacral or perianal mass, and difficulty with defecation. In some cases, the duplication may become complicated by infection, obstruction, or rarely malignant transformation of the mucosal lining in adulthood. Diagnosis is typically established through imaging studies including pelvic ultrasound, MRI of the pelvis, and contrast studies, sometimes supplemented by endoscopic evaluation. The standard treatment is surgical excision of the duplicated segment, which is generally curative. The surgical approach depends on the size, location, and relationship of the duplication to surrounding structures, and may range from a posterior sagittal approach to transanal or laparoscopic techniques. Long-term prognosis after complete surgical removal is excellent, with low recurrence rates when the duplication is entirely resected.
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Isolated rectal duplication.
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Specialists
View all specialists →No specialists are currently listed for Isolated rectal duplication.
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 Isolated rectal duplication.
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Common questions about Isolated rectal duplication
What is Isolated rectal duplication?
Isolated rectal duplication is a rare congenital malformation in which an additional tubular or cystic structure lined by intestinal mucosa is found adjacent to the rectum, without other associated gastrointestinal duplications or systemic anomalies. It belongs to the broader category of alimentary tract duplications but is distinguished by its isolated occurrence in the rectal region. The duplicated segment typically shares a common muscular wall or blood supply with the native rectum and may be located in the presacral or retrorectal space. Clinical presentation varies depending on the size
How is Isolated rectal duplication inherited?
Isolated rectal duplication follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.