OrphaNet reference

Blackfan-Diamond anemia 

May Cause

Anemia

Bladder diverticulum

Congenital fused vertebrae

Enlarged thumb

Hydrops fetalis

Hypertelorism

Hypopituitarism

Increased nuchal fold

Increased risk of neoplasm

Microtia

Nuchal cystic hygroma

Pancytopenia

Preaxial polydactyly

Radial ray syndrome

Triphalangeal thumb