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Living with Fanconi anemia

An inherited condition with bone marrow that makes too few blood cells, physical differences, organ problems, and a higher risk of some cancers.

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Understanding Fanconi anemia

Fanconi anemia is an inherited condition marked by bone marrow failure, physical differences, organ problems, and a higher risk of certain cancers.

About 90 percent of people with Fanconi anemia have bone marrow that does not work well, so they make fewer red cells, white cells and platelets. This can cause tiredness, frequent infections, and clotting problems. Many people also have slow growth, skin color changes, and differences in the thumbs or forearms. It often shows up in childhood.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Low red blood cells (anemia)
  • Low platelets (thrombocytopenia)
  • Low white blood cells and frequent infections
  • Short stature and slow growth
  • Skin color changes and café-au-lait spots
  • Thumb or forearm bone differences

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include blood and bone marrow specialists, bone and joint specialists, brain and nervous system specialists and cancer specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    Fanconi Cancer Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Blood and bone marrow specialists (hematologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists)
Expert care
Expert lists: Fanconi Cancer Foundation
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Fanconi Cancer Foundation and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Which gene group do I or my child have, and how is it tested?
How often should blood counts and bone marrow be checked?
What cancer screening should we plan for?

Quick facts

Symptoms usually startChild
InheritanceAutosomal Recessive, X-Linked

Changes in genes cause it. GARD says it can be inherited in an autosomal recessive way (a changed copy from each parent) or an X-linked way.

GeneticNeurologicalKidneySkinBlood

Also known as: fa; fanconi pancytopenia; fanconi pancytopenia syndrome; fanconi panmyelopathy; fanconi's anaemia; fanconi's anemia

Patient organizations

Source: NIH GARD · Fanconi anemiaGARD ID 6425 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Fanconi anemia.

Explore the Fanconi anemia blog
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Explore research for Fanconi anemia

Explore actively recruiting Fanconi anemia studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Fanconi anemia with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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