Fanconi Anemia Complementation Group L C3469528
A rare genetic disorder affecting DNA repair, causing bone marrow failure and increased cancer risk. Management includes supportive care and stem cell transplant for eligible patients.
Key facts at a glance
- ICD-10
- D61.03
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Bone marrow failure (pancytopenia)
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Congenital skeletal anomalies (radial ray defects, thumb anomalies)
(hematologic)Renal malformations
(hematologic)Ocular abnormalities (microphthalmia, strabismus)
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Hematopoietic Stem Cell Transplantation
Curative approach for bone marrow failure using chemotherapy and/or radiation followed by infusion of donor stem cells. This is the definitive treatment for severe aplastic anemia in Fanconi anemia patients.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Androgen Therapy
Synthetic androgens such as oxymetholone may stimulate bone marrow production and improve blood counts. This serves as a bridge therapy while awaiting transplantation or for patients without a suitable donor.
Additional treatment options
Cancer Surveillance Protocol
Regular screening including annual bone marrow exams, imaging studies, and tumor marker monitoring due to elevated solid tumor and hematologic malignancy risk in Fanconi anemia.
monitoringSurgical Correction of Anomalies
Orthopedic, reconstructive, or other surgical interventions to address physical abnormalities such as thumb/radial abnormalities, hearing defects, or congenital heart defects associated with Fanconi anemia.
procedureNeuropsychological Support
Developmental assessment and educational support services to address learning disabilities, attention deficits, and cognitive delays that may accompany Fanconi anemia in some patients.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Fanconi Anemia Complementation Group L C3469528?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy