What is the inheritance pattern of Fanconi anaemia?

Autosomal recessive

What are the main clinical features of Fanconi anaemia?

• haematological: aplastic anaemia, increased risk of acute myeloid leukaemia
• neurological
• skeletal abnormalities: short stature, thumb/radius abnormalities
• cafe au lait spots

What is the pathophysiology of Fanconi anaemia?

impaired response to DNA damage in the FA/BRCA pathway