Cowden syndrome 1
ORPHA: 201
Overview
inherited disorder causing tumor-like growth and increased cancer risk
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 Cowden syndrome 1, sourced from HPO and Orphanet clinical annotations.
Abnormal penis morphologyAbnormality of the kidneyAbnormality of the uterusMacroglossiaHigh palateFurrowed tongueMacrocephalyHearing impairmentCataractMyopiaAutismPectus excavatumGynecomastiaAbnormality of the thyroid glandGoiterPalmoplantar keratodermaMelanocytic nevusCavernous hemangiomaHypopigmented skin patchesBrachydactylyIntellectual disabilitySeizureAtaxiaGlobal developmental delayAbnormal cerebellum morphologySubcutaneous noduleFailure to thriveIncreased intracranial pressureScoliosisNeoplasmKyphosisMeningiomaMelanomaBreast carcinomaShort statureHamartomatous polyposisCellular immunodeficiencyRenal cell carcinomaGeneralized hyperkeratosisFollicular thyroid carcinomaMultiple cafe-au-lait spotsNeoplasm of the skinEnlarged polycystic ovariesAdenoma sebaceumFibromaLipomaBone cystEndometrial carcinomaMaculePapillomaNeoplasm of the central nervous systemNeoplasm of the thyroid glandCognitive impairmentMucosal telangiectasiaeConjunctival hamartomaPapuleColorectal polyposis
Classification & Codes
Orphanet Code
ORPHA:201Cowden syndrome 1
| Orphanet | ORPHA:201 |
| Treatments | 0 drug(s) |
| Symptoms on record | 57 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO