- pancytopenia secondary to bone marrow failure
- dysmorphic features
- short stature
- microcephaly
- absent radii
- cafe au lait spots
- susceptibility to cancers
- AML
- squamous cell cancers of head and neck
- gynaecological cancers
Most patients die by 30.
For the really keen:
emedicine article on Faconi anaemia
For the rest of us lets move on to look at the similarly named, but completely different, Fanconi Syndrome
