Juvenile polyposis syndrome: MedlinePlus Genetics | Polyposis syndrome

Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. Explore symptoms ...YouAreHere:Home→Genetics→GeneticConditions→JuvenilepolyposissyndromeURLofthispage:https://medlineplus.gov/genetics/condition/juvenile-polyposis-syndrome/JuvenilepolyposissyndromeFromGeneticsHomeReference.LearnmoreDescriptionJuvenilepolyposissyndromeisadisordercharacterizedbymultiplenoncancerous(benign)growthscalledjuvenilepolyps.Peoplewithjuvenilepolyposissyndrometypicallydeveloppolypsbeforeage20;however,inthenameofthiscondition"juvenile"referstothecharacteristicsofthetissuesthatmakeupthepolyp,nottheageoftheaffectedindividual.Thesegrowthsoccurinthegastrointestinaltract,typicallyinthelargeintestine(colon).Thenumberofpolypsvariesfromonlyafewtohundreds,evenamongaffectedmembersofthesamefamily.Polypsmaycausegastrointestinalbleeding,ashortageofredbloodcells(anemia),abdominalpain,anddiarrhea.Approximately15percentofpeoplewithjuvenilepolyposissyndromehaveotherabnormalities,suchasatwistingoftheintestines(intestinalmalrotation),heartorbrainabnormalities,anopeningintheroofofthemouth(cleftpalate),extrafingersortoes(polydactyly),andabnormalitiesofthegenitaliaorurinarytract.Juvenilepolyposissyndromeisdiagnosedwhenapersonhasanyoneofthefollowing:(1)morethanfivejuvenilepolypsofthecolonorrectum;(2)juvenilepolypsinotherpartsofthegastrointestinaltract;or(3)anynumberofjuvenilepolypsandoneormoreaffectedfamilymembers.Singlejuvenilepolypsarerelativelycommoninchildrenandarenotcharacteristicofjuvenilepolyposissyndrome.Threetypesofjuvenilepolyposissyndromehavebeendescribed,basedonthesignsandsymptomsofthedisorder.Juvenilepolyposisofinfancyischaracterizedbypolypsthatoccurthroughoutthegastrointestinaltractduringinfancy.Juvenilepolyposisofinfancyisthemostsevereformofthedisorderandisassociatedwiththepoorestoutcome.Childrenwiththistypemaydevelopaconditioncalledprotein-losingenteropathy.Thisconditionresultsinseverediarrhea,failuretogainweightandgrowattheexpect


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