juvenile polyposis syndrome
ORPHA: 2929
Overview
autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with juvenile polyposis syndrome, sourced from HPO and Orphanet clinical annotations.
Intestinal polypJuvenile colonic polyposisRectal polyposisJuvenile gastrointestinal polyposisHamartomatous stomach polypsHematocheziaAnemiaAbdominal painIntussusceptionDiarrheaRectoceleGrowth delayEdemaGastrointestinal hemorrhageChronic fatigueProtein-losing enteropathyMacrocephalyMultiple lipomasHemangioblastomaAbnormal facial shapeLarge foreheadHypertelorismDownslanted palpebral fissuresDepressed nasal bridgeLow-set earsNarrow mouthShort chinMild intellectual disabilitySpontaneous, recurrent epistaxisMucosal telangiectasiaeVisceral angiomatosisTransient ischemic attackBrain abscessExtrahepatic portal hypertensionPulmonary arterial hypertensionColon cancerStomach cancerNeoplasm of the pancreasNeoplasm of the small intestineHamartomatous polyposisSmall intestinal polyposisFailure to thriveAnasarcaHypoproteinemiaEpistaxisArteriovenous malformationClubbing of fingersPulmonary arteriovenous malformationHepatic arteriovenous malformationCerebral arteriovenous malformationAbnormal onset of bleedingNeoplasm of the gastrointestinal tract
Classification & Codes
Orphanet Code
ORPHA:2929juvenile polyposis syndrome
| Orphanet | ORPHA:2929 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO