Disease at a Glance

Summary
Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes in the APC gene and inherited in an autosomal dominant manner. These may include high risk screening, prophylactic surgeries and/or certain types of medications.

About Gardner syndrome

Many rare diseases have limited information. Currently GARD is able to provide the following information for Gardner syndrome:

  • Population Estimate:In the US, there are less than 50,000 with this disease.
  • Symptoms:May start to appear as an Adult.
  • Experts:Patient organizations are available to help find a specialist for this condition.
  • Organizations:Organizations specific to this condition are available to help find support. 

When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal
Before Birth
Newborn
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult Selected
19-65 years
Older Adult
65+ years
Symptoms may start to appear as an Adult.

Symptoms

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:
Digestive System

33 Symptoms

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Digestive System

The digestive system is made up of the esophagus, stomach, intestines, liver, pancreas, and gallbladder. Common symptoms of problems in the digestive system include blood in the stool, changes in bowel habits, severe abdominal pain, unintentional weight loss, or heartburn. Diseases affecting the digestive system may be diagnosed and treated by a gastroenterologist (GI specialist).

Causes

Genetic Disease

Gardner syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: APC

What is a gene?

Genes are part of our DNA, the basic genetic material found in each of our body's cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins. 

Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.

Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)
Genes are part of our DNA, the basic genetic material found in each of our body's cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins. 

Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.

Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)
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Advocacy and Support Groups

How can a patient organization be helpful?

Patient advocacy and support organizations offer many valuable services and often drive the research and development of treatments for their disease(s). Because these organizations include the life experiences of many different people who have a specific disease, they may best understand the resources needed by those in their community. Although missions of organizations may differ, services may include, but are not limited to:
 

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Latest treatment and research information
  • Lists of specialists or specialty centers
  • Financial aid and travel resources
Please note: GARD provides the names of patient organizations for informational purposes only and not as an endorsement of their services. Please contact the organization directly if you have questions about the information or resources they provide.

What do disease-specific organizations do?

Some organizations build a community of patients and families impacted by a specific disease or group of related diseases. These organizations usually have more disease-specific information and services, including helping new members find others who have the same disease.

What do organizations that focus on a medical condition do?

Some organizations build a community of patients and families impacted by a medical condition, like epilepsy, or related conditions, like heart problems, that may also be a symptom in other diseases. These organizations usually have information and services focused more on the medical condition(s), but may also have information about associated diseases.

What do umbrella organizations do?

Rare disease umbrella organizations focus on improving the lives of all those impacted by rare diseases through education and advocacy efforts. Umbrella organizations provide a range of services for patients, families, and disease-specific organizations.

Patient Organizations

5 Organizations

Organization Name

Organization Type

Service

Country

Language

Desmoid Tumor Research Foundation
https://dtrf.org/
Disease Specific

Gardner Syndrome

Service

Information

Research

Specialist

Country

United States

Language

English

EveryLife Foundation for Rare Diseases
https://everylifefoundation.org/
Umbrella

Gardner Syndrome

Service

Information

Country

United States

Language

English

Spanish

Umbrella

Gardner Syndrome

Service

Information

Country

United States

Language

English

Umbrella

Gardner Syndrome

Service

Information

Country

United States

Language

English

National Organization for Rare Disorders
https://rarediseases.org/
Umbrella

Gardner Syndrome

Service

Information

Research

Country

United States

Language

English

Spanish

5 Organizations

Research

Why is Research Important for Rare Diseases?

Research increases what we know about rare diseases so that people can get a diagnosis more quickly and can know what to expect. Research also helps doctors better understand how well a treatment works and can lead to new treatment discoveries. It may even help improve diagnosis and treatment of more common diseases.

How do you find the right clinical study?

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

Current clinical studies can be found by using ClincalTrials.gov. Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria.

How do you find the right clinical study?

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

Current clinical studies can be found by using ClincalTrials.gov. Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria.

Last Updated: Nov. 8, 2021