Interventions with Children

Question 1

What is fanconi anemia?

Answer 1

chromosome breakage and instability disorder (about 23 genes)
each gene is associated with its own set of manifestations (variable expresivity)
about 3-5% caused by biallelic mutations in the BRCA2 gene

Question 2

What clinical features are associated with fanconi anemia?

Answer 2

increased risk for cancers (leukemia most common) some brain tumors and oral cancers
various birth defects (heart defects, limb anomalies such as syndactyly, absent thumb, anal atresia)
potential for ASD
short stature
bone marrow failure (if untreated)