Juvenile Polyposis SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Juvenile Polyposis Syndrome
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract.
Mutations in the BMPR1A and SMAD4 genes cause juvenile polyposis syndrome. These genes provide instructions for making proteins that are involved in transmitting chemical signals from the cell membrane to the nucleus. This type of signaling pathway allows the environment outside the cell to affect how the cell produces other proteins. The BMPR1A and SMAD4 proteins work together to help regulate the activity of particular genes and the growth and division (proliferation) of cells.
Juvenile polyposis syndrome occurs in approximately 1 in 100,000 individuals worldwide.
Juvenile polyposis syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Cleveland Clinic Main Campus
Carol Burke is an Oncologist practicing medicine in Cleveland, Ohio. She has been practicing medicine for over 46 years. Dr. Burke is rated as an Elite provider by MediFind in the treatment of Juvenile Polyposis Syndrome. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Familial Adenomatous Polyposis, Juvenile Polyposis Syndrome, Familial Colorectal Cancer, Colonoscopy, and Endoscopy. Dr. Burke is board certified in American Board Of Internal Medicine, 1993.
Swedish Gastroenterology - Issaquah
Dr. Price practices general Gastroenterology with a particular interest in esophageal motility, eosinophilic esophagitis, acid reflux disease, inflammatory bowel disease, and colorectal cancer screening. She believes effective communication is the cornerstone to understanding different treatment options and providing evidence based practices for each person's unique situation. She feels it is an honor to help people. Dr. Price wants to provide preventative care and management for patients with chronic GI illnesses. Dr. Price is rated as an Advanced provider by MediFind in the treatment of Juvenile Polyposis Syndrome. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Cronkhite-Canada Disease, Juvenile Polyposis Syndrome, Attenuated Familial Adenomatous Polyposis, Colonoscopy, and Endoscopy. Dr. Price is board certified in American Board Of Internal Medicine. Dr. Price is currently accepting new patients.
Anne Jelsig practices practicing medicine in Odense C, Denmark. Ms. Jelsig is rated as an Elite expert by MediFind in the treatment of Juvenile Polyposis Syndrome. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Juvenile Polyposis Syndrome, Peutz-Jeghers Syndrome, Melasma, Endoscopy, and Gastrectomy.
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
Published Date: October 01, 2013
Published By: National Institutes of Health