Rapadilino syndrome

Rapadilino syndrome is an autosomal recessive congenital disorder characterized by radial and patellar aplasia, short stature, arched or cleft palate, limb malformation, and dislocated joints. It is more prevalent in Finland than elsewhere in the world.

It has been associated with RECQL4. This is also associated with Rothmund-Thomson syndrome and Baller-Gerold syndrome.