Short answer · Medically reviewed summary · Last updated: 2026-05-08
Juvenile polyposis syndrome (JPS) is a rare hereditary condition characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. While "Juvenile polyposis syndrome" is the current preferred clinical term, it is frequently documented in medical literature under synonyms such as generalized juvenile gastrointestinal polyposis or juvenile polyposis of the colon. What are the historical and alternative names for Juvenile polyposis syndrome? The naming of Juvenile polyposis syndrome has evolved significantly since its initial description.
Juvenile polyposis syndrome synonyms
Other names for Juvenile polyposis syndrome: synonyms, acronyms and related terms used by doctors and patients.
Juvenile polyposis syndrome (JPS) is a rare hereditary condition characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. While "Juvenile polyposis syndrome" is the current preferred clinical term, it is frequently documented in medical literature under synonyms such as generalized juvenile gastrointestinal polyposis or juvenile polyposis of the colon.
What are the historical and alternative names for Juvenile polyposis syndrome?
The naming of Juvenile polyposis syndrome has evolved significantly since its initial description. Historically, the term "juvenile" was selected because the polyps were mistakenly thought to be exclusively pediatric; however, we now know the condition affects all ages. Older literature may refer to it as "retention polyposis" or "multiple juvenile polyposis." These terms can sometimes appear in older patient records or legacy diagnostic databases.
How is Juvenile polyposis syndrome classified in medical systems?
Medical professionals and researchers rely on standardized classification systems to ensure clarity in research and clinical care. The following identifiers are critical for navigating your medical records:
- OMIM (Online Mendelian Inheritance in Man): #174900
- Orphanet: ORPHA733
- ICD-10/11: Often coded under D12.6 (benign neoplasm of colon) or linked to specific genetic mutations like SMAD4 or BMPR1A.
Why does Juvenile polyposis syndrome have so many names?
The variety of names for Juvenile polyposis syndrome stems from the medical community’s changing understanding of the disease's pathology. Early researchers focused on the histological appearance of the polyps, leading to names like "hamartomatous polyposis." As the genetic basis of Juvenile polyposis syndrome became clear—specifically mutations in the SMAD4 and BMPR1A genes—the terminology shifted to reflect a systemic, hereditary syndrome rather than just a localized finding in the colon.
Which name should patients and providers use?
Today, Juvenile polyposis syndrome is the universally accepted terminology in clinical practice and genetic counseling. Using the standard name Juvenile polyposis syndrome ensures that your healthcare providers are accessing the most current protocols for cancer screening and surveillance. Currently, 12 people with Juvenile polyposis syndrome have joined the DiseaseMaps.org community to share their experiences and help navigate these diagnostic complexities.
Next steps
- Consult a clinical geneticist to discuss potential SMAD4 or BMPR1A testing.
- Request a referral to a gastroenterologist specializing in hereditary polyposis syndromes.
- Connect with the DiseaseMaps.org community to share experiences with others living with Juvenile polyposis syndrome.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Juvenile polyposis syndrome
- Orphanet: Juvenile polyposis syndrome (ORPHA733)
- Online Mendelian Inheritance in Man (OMIM): #174900
- National Cancer Institute (NCI) Physician Data Query: Genetics of Colorectal Cancer
