About the Guidelines

The Fanconi Anemia Clinical Care Guidelines is a publication of the Fanconi Anemia Research Fund (now Fanconi Cancer Foundation). The fifth edition, published in 2020, built on the fourth edition from 2014 and featured updated, evidence-based recommendations for managing the complex medical needs of people with Fanconi anemia (FA). All contributing authors are physicians or clinical care providers with expertise in treating individuals with FA.

Since 2020, select chapters have been updated online to reflect the latest medical knowledge and best practices. We recommend referencing the online guidelines to ensure you are accessing the latest information.

Chapters that have been updated since 2020: Chapter 2, Chapter 3

The guidelines begin with a summary of the molecular mechanisms of the FA DNA repair pathway and the diagnostic testing process. Subsequent chapters address health issues specific to people with FA, including hematologic concerns, squamous cell carcinoma, oral and dental care, gynecologic and dermatologic care, gastrointestinal issues, endocrine disorders, hearing and skeletal abnormalities. The guidelines conclude with a summary of clinical care recommendations.

These guidelines are written primarily for clinical providers. However, individuals with FA and their families may also find the information useful in understanding the condition and advocating for high-quality care.

Questions? Email us.