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.
Anne Jelsig is in Copenhagen, Denmark. Jelsig is rated as an Elite expert by MediFind in the treatment of Juvenile Polyposis Syndrome. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Juvenile Polyposis Syndrome, Peutz-Jeghers Syndrome, Cronkhite-Canada Disease, and Melasma.
Lodewijk Brosens is in Utrecht, Netherlands. Brosens is rated as an Elite expert by MediFind in the treatment of Juvenile Polyposis Syndrome. They are also highly rated in 19 other conditions, according to our data. Their top areas of expertise are Juvenile Polyposis Syndrome, Peutz-Jeghers Syndrome, Pancreatic Cancer, and Familial Adenomatous Polyposis.
Francis Giardiello is a Gastroenterologist in Baltimore, Maryland. Dr. Giardiello has been practicing medicine for over 42 years and is rated as a Distinguished doctor by MediFind in the treatment of Juvenile Polyposis Syndrome. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Familial Adenomatous Polyposis, Juvenile Polyposis Syndrome, Attenuated Familial Adenomatous Polyposis, and Peutz-Jeghers Syndrome. He is licensed to treat patients in Maryland. Dr. Giardiello is currently accepting new patients.
Published Date:updated Last, October
Published By: National Institutes of Health