Isolated rectal duplication

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ORPHA:171220Q43.4
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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.

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Isolated rectal duplication.

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No actively recruiting trials found for Isolated rectal duplication at this time.

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No specialists are currently listed for Isolated rectal duplication.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA 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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Community

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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.