Overview
Fanconi anemia (FA), also known as Fanconi pancytopenia or Fanconi aplastic anemia, is a rare inherited disorder of DNA repair that affects multiple body systems. It is characterized by progressive bone marrow failure, congenital malformations, and a markedly increased predisposition to cancer, particularly acute myeloid leukemia (AML) and squamous cell carcinomas of the head, neck, and anogenital region. FA is caused by pathogenic variants in any of at least 22 genes (FANCA through FANCW) involved in the Fanconi anemia DNA repair pathway, which is critical for repairing interstrand DNA crosslinks. Congenital abnormalities are present in approximately 60–75% of affected individuals and can involve multiple organ systems. Common physical findings include short stature, abnormal skin pigmentation (café-au-lait spots, hypopigmentation), skeletal anomalies (particularly radial ray defects such as absent or hypoplastic thumbs and radii), renal malformations, microcephaly, microphthalmia, and cardiac defects. Some patients may have hearing loss, gastrointestinal anomalies, or hypogonadism. Importantly, approximately 25–40% of individuals with FA have no visible congenital anomalies, which can delay diagnosis. Bone marrow failure typically develops during the first decade of life, usually presenting as thrombocytopenia or pancytopenia. The diagnosis is confirmed by demonstrating increased chromosomal breakage in peripheral blood lymphocytes exposed to DNA crosslinking agents such as diepoxybutane (DEB) or mitomycin C (MMC). Treatment of bone marrow failure includes supportive care with blood transfusions, androgens (such as oxymetholone) to stimulate blood cell production, and hematopoietic growth factors. Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment for the hematologic manifestations and is ideally performed from an HLA-matched sibling donor using reduced-intensity conditioning regimens tailored for FA patients. Gene therapy approaches are under active clinical investigation. Lifelong cancer surveillance is essential, as the cancer risk persists even after successful transplantation.
Also known as:
Clinical phenotype terms— hover any for plain English:
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsAgnieszka Czechowicz — PHASE1, PHASE2
National Cancer Institute (NCI) — NA
The First Affiliated Hospital with Nanjing Medical University — NA
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau — PHASE1, PHASE2
Okayama University — PHASE2
The First Affiliated Hospital with Nanjing Medical University — NA
Maastricht University Medical Center — PHASE1, PHASE2
National Cancer Institute (NCI) — NA
Masonic Cancer Center, University of Minnesota — NA
Porteus, Matthew, MD — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Fanconi anemia.
13 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
Cincinnati Children's Hospital Medical Center
📍 Cincinnati, Ohio
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Fanconi anemia.
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Start the conversation →Latest news about Fanconi anemia
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Common questions about Fanconi anemia
What is Fanconi anemia?
Fanconi anemia (FA), also known as Fanconi pancytopenia or Fanconi aplastic anemia, is a rare inherited disorder of DNA repair that affects multiple body systems. It is characterized by progressive bone marrow failure, congenital malformations, and a markedly increased predisposition to cancer, particularly acute myeloid leukemia (AML) and squamous cell carcinomas of the head, neck, and anogenital region. FA is caused by pathogenic variants in any of at least 22 genes (FANCA through FANCW) involved in the Fanconi anemia DNA repair pathway, which is critical for repairing interstrand DNA crossl
Are there clinical trials for Fanconi anemia?
Yes — 13 recruiting clinical trials are currently listed for Fanconi anemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Fanconi anemia?
25 specialists and care centers treating Fanconi anemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.