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Li-Fraumeni syndrome

MeSH: D016864ORPHA: 524

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata

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 Li-Fraumeni syndrome, sourced from HPO and Orphanet clinical annotations.

NeoplasmBreast carcinomaLeukemiaLymphomaOsteosarcomaRhabdomyosarcomaEpendymomaAdrenocortical carcinomaNeoplasm of the gastrointestinal tractAstrocytomaStomach cancerGlioblastoma multiformeCentral primitive neuroectodermal tumorChoroid plexus carcinomaNeoplasm of the central nervous systemColorectal polyposisMelanomaMyelodysplasiaMedulloblastomaThyroid carcinomaNeoplasm of the pancreasColon cancerAcute myeloid leukemiaAcute lymphoblastic leukemiaRenal neoplasmTesticular neoplasmProstate cancerHodgkin lymphomaNeoplasm of head and neckNon-Hodgkin lymphomaNeoplasm of the lungNeoplasm of the larynxOvarian neoplasmNeoplasm of the rectumChoriocarcinoma

Classification & Codes

MeSH Code

D016864

Orphanet Code

ORPHA:524
Li-Fraumeni syndrome
MeSHD016864
OrphanetORPHA:524
Treatments0 drug(s)
Symptoms on record35 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO