Fanconi anemia
- Synonyms
- Fanconi pancytopenia; Fanconi's anemia
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Parinda A Mehta
- Christen Ebens
- view full author information
Available tests
52 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (52 available)
Cytogenetics Tests
- FARF, 2008Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management (3rd Ed.), 2008 (See 2020 Update)
- NCI PDQ, Skin CancerGenetics of Skin Cancer (PDQ®): Health Professional Version
- NCI PDQ, Breast and Gynecologic CancersGenetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- FARF, 2020Fanconi Anemia Clinical Care Guidelines, Fifth Edition.
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