Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematologica...
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
The documentation regarding Fanconi anemia is limited primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This low prevalence restricts the scope of systematic clinical studies and comprehensive genetic investigations. Additionally, the lack of identified genes and an established inheritance pattern further complicates our understanding of the condition. Ongoing research aims to improve characterization and management strategies.
Key clinical features of Fanconi anemia include significant hematological abnormalities such as anemia and thrombocytopenia, which are present in 80-99% of affected individuals. Additionally, patients may exhibit physical anomalies like aplasia or hypoplasia of the radius and short stature. Skin manifestations, including irregular hyperpigmentation and hypopigmented patches, are also common. These symptoms reflect the disorder's impact on multiple body systems, particularly the hematologic and integumentary systems.
To navigate your journey with Fanconi anemia, consider consulting with a hematologist who specializes in inherited blood disorders. They can provide tailored management strategies and monitor your health closely. The Fanconi Cancer Foundation offers valuable resources and support for patients and families affected by this condition, which you can access at https://fanconi.org. Additionally, inquire about participation in any available patient registries or natural history studies to contribute to the understanding of this rare disease.
Currently, there are 33 active clinical trials investigating various aspects of Fanconi anemia. These trials may offer opportunities for patients to participate in cutting-edge research and potentially gain access to novel therapies. For more information, you can explore the active clinical trials at ClinicalTrials.gov using the search term 'Fanconi anemia'.
Actionable guidance for navigating care for Fanconi anemia
To navigate your journey with Fanconi anemia, consider consulting with a hematologist who specializes in inherited blood disorders. They can provide tailored management strategies and monitor your health closely. The Fanconi Cancer Foundation offers valuable resources and support for patients and families affected by this condition, which you can access at https://fanconi.org. Additionally, inquire about participation in any available patient registries or natural history studies to contribute to the understanding of this rare disease.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Fanconi anemia community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
2 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 5 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.