Hereditary Polyposis Clinic

Providing Unique Expertise for Children and Families At Risk for Inherited Polyposis or Cancer-Related Digestive Disorders

Hereditary Polyposis Clinic

Our multidisciplinary program provides unique expertise for children and their families in diagnosis and treatment of hereditary polyposis disorders.

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Nationwide Children's Hospital is ranked by U.S. News & World Report for Gastroenterology and GI Surgery.

About Our Program

The diagnosis and management of children and families with hereditary polyp disorders and gastrointestinal cancer syndromes is a multidisciplinary process that includes primary care physicians, geneticists, genetic counselors, adult and pediatric gastroenterologists, social workers and surgeons. Early identification of the child at risk allows for better surveillance and counseling with the goal of reducing cancer risk and improving quality of life. For those with polyposis disorders, regular endoscopic surveillance of the digestive tract is an important way of controlling disease complications and cancer risk. Our team works closely with multiple collaborators regionally and across the United States:

With a focus on identifying the genetic or molecular cause(s) for the disease process, we are better able to develop a comprehensive, multidisciplinary management plan that meets the needs of each of our patients and their families. Our goal is to reduce uncertainty and suffering and promote well-being, empowering our patients to live longer, healthier and more active lives.

Our Multidisciplinary Team

The strength of the Hereditary Polyposis Clinic at Nationwide Children’s comes from our multidisciplinary team. “Polyp Clinic” is held most Wednesday mornings in the GI clinic at Nationwide Children’s Hospital allowing the team to gather in one location to better serve our patients. We recognize that each patient is unique. Accordingly, our team members combine their unique areas of expertise to provide comprehensive care for each patient.

The disciplines of Pediatric Gastroenterology, Cancer Genetics/Genetic Counseling and Pediatric Psychology make up the core of our care team and are directly involved with all patients.

Additional specialties within Nationwide Children’s that can contribute to the patient’s care include:

Meet Our Team

Areas of Focus

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Polyps in the Digestive Tract 

A polyp is an outgrowth of tissue that can extend out into the empty space within the stomach, small intestine, or colon. Colon polyps can be seen in healthy children. But when present in greater numbers, keep recurring or have bothersome features, other medical conditions that can be associated with lifetime risk should be considered. Polyps can generally be divided into two groups based on structure or appearance: hamartomas and adenomas.

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Familial Adenomatous Polyposis (FAP) / Gardner Syndrome 

Familial adenomatous polyposis (FAP), previously known as Gardner syndrome, is an inherited colorectal cancer syndrome characterized by the development of numerous adenomas throughout the digestive tract. Other organs of the body can be affected as well. FAP can be passed from one generation to the next or occur as a new genetically driven disorder.

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Lynch Syndrome / HNPCC 

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited cancer syndrome that affects the digestive tract, reproductive tract and other major organs. It is the most common of the digestive cancer risk syndromes.

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Constitutional Mismatch Repair Deficiency Syndrome (CMMRD) 

Constitutional mismatch repair deficiency (CMMRD), sometimes called biallelic mismatch repair deficiency or homozygous mismatch repair mutations, is a hereditary cancer predisposition syndrome that results in significantly increased risks of developing numerous types of cancer – including colorectal, brain and leukemia/lymphoma – beginning in early childhood. CMMRD occurs when a child inherits the same Lynch syndrome/HNPCC gene mutation from each parent.

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Juvenile Polyposis Syndrome (JPS) 

Juvenile polyposis syndrome is an inherited condition that is characterized by the development of hamartomatous polyps throughout the digestive tract.

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Peutz-Jeghers Syndrome (PJS) 

Peutz-Jeghers syndrome is an inherited syndrome which typically results in hamartomatous polyps throughout the digestive tract, lifetime cancer risk and blue/black freckling or macules that can be seen on the lips, mouth, nostrils, hands, feet and genitalia.

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PTEN Hamartoma Tumor Syndrome (PHTS) / Cowden Syndrome 

PTEN hamartoma tumor syndrome, sometimes called Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (BRRS), is a hereditary syndrome that causes an individual to develop pre-cancerous and non-cancerous growths, including intestinal polyps, and in some cases, learning disabilities and/or autism spectrum disorder.

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Other inherited digestive cancer risk syndromes including those that involve the stomach and pancreas 

Some patients have a personal or family history of polyps or early onset gastrointestinal cancer where a known genetic diagnosis is not apparent. We work to review personal and family medical history, perform risk assessment and offer clinical or research options for genetic evaluation of patients and families at risk.

Diagnostic and Therapeutic Procedures

The Hereditary Polyposis Clinic provides state of the art diagnostic and therapeutic services including:


A colonoscopy is a test that allows the doctor to look directly at the lining of the large intestine (colon) using a long flexible tube that has a light and video chip at the end (colonoscope).

Upper Endoscopy

An upper endoscopy is a test that allows your child’s doctor to examine the lining of the esophagus (swallowing tube), stomach, and duodenum (first part of the small intestine).

Double Balloon Enteroscopy (DBE)

Double balloon enteroscopy (DBE) allows for direct visualization of the entire small intestine with the ability to obtain biopsies, to remove polyps, or to treat a bleeding site.


Polyps are relatively common in children. As part of both the evaluation and treatment of polyps, they are removed endoscopically by polypectomy.

Capsule Endoscopy

Noninvasive capsule endoscopy allows for visualization of the lining of the small intestine in areas of the intestine which cannot be seen with standard endoscopy.

Resources for Patients

700 Children's Blog

Understanding Genetic Predisposition to Cancer

When a child is diagnosed with cancer, parents commonly ask, “Does this put my other kids at higher risk for developing cancer as well?” Most of the time, the answer to this question is “no”.

Hereditary Polyposis Research

Juvenile polyposis syndrome is an inherited condition that is characterized by the development of hamartomatous polyps throughout the digestive tract. This syndrome is known for its unpredictability.

Genetic mistakes in two genes (BMPR1A and SMAD4) have been linked to roughly half of the families with this syndrome meaning other causative genes remain to be identified. 

Faculty members at Nationwide Children’s are focused on learning more about how polyposis develops in order to improve diagnosis, treatment and prevention strategies.

Referrals to the Hereditary Polyposis Clinic

Patients and Families at Risk (Red Flags for Hereditary Colorectal Cancer)

  • Three or more family members diagnosed with cancer (family clustering)
  • Colorectal cancer at an early age (<50 years)
  • A patient or family member with two or more cancers at the same time or recurrent primary cancers in the same organ system over time
  • Children with colorectal adenomas or more than five juvenile polyps 
  • Having a family history of a polyposis disorder
  • Early, unexplained gastrointestinal cancer death in a parent or sibling

Associated cancers may include colorectal cancer, or cancer of the endometrium, small intestine, brain, ureter or renal pelvis.

Referring a Patient to the Hereditary Polyposis Clinic

The Hereditary Polyposis Clinic needs a referral from a primary care provider or other medical specialist to ensure that patients are appropriate for this service, and to obtain and review medical records prior to a timely and comprehensive evaluation. Please feel free to call if you have questions or encounter problems in this process.

For Families: While families cannot schedule an appointment without a physician referral, we encourage you to work with your doctor to request a referral. You may download our Referral Form, send it to your doctor and request that he or she complete the complete the information and send a signed copy to us.

Refer a Patient

Questions? You may call us at (614) 722-3450 (referring providers only).

For 24-hour urgent physician consultations, referring providers may call the Nationwide Children’s Physician Direct Connect Line at (614) 355-0221 or (877) 355-0221.

Meet Matthew
Patient Story

Meet Matthew

During an eye exam, the resident found genetic markers for familial polyposis (called CHRPEs) on Matt’s retina. At age 11 Matthew had his first colonoscopy and had more than 100 precancerous polyps in his colon. He has to have yearly colonoscopies to check the growth and progress of the polyps.