Factsheet
Condition:
Fanconi anemia
Inheritance:
Autosomal recessive
Genetic Etiology:
Genetically heterogeneous; mutation in various genes involved in DNA repair.
Frequency:
Approximately 1/100,000
Clinical features:
Common features include short stature, skin hyperpigmentation with café-au-lait spots, malformations of the upper limbs (absent, hypoplastic, or supernumerary thumbs), ocular anomalies (microophthalmia, strabismus), renal anomalies (horseshoe or dysplastic kidneys), hypogonadism, and gastrointestinal anomalies. There is a progressive bone marrow failure leading to pancytopenia and a greatly increased risk of cancer.
Management:
Avoidance of sun exposure; supportive care.
Genetic counseling:
Parents of affected child have 25% recurrence risk; molecular genetic testing for some of the genes responsible; diagnostic testing most often done by testing for chromosome breakage upon exposure of cultured peripheral blood cells to diepoxybutane.