Rapadilino Syndrome

RAPADILINO syndrome is an autosomal recessive disorder characterized by:

• RA: radial ray defect
• PA: patellar aplasia, arched or cleft palate
• DI: diarrhea, dislocated joints
• LI: little (short stature), limb malformation
• NO: slender nose, normal intelligence

It is more prevalent in Finland than elsewhere in the world. It has been associated with the gene RECQL4. This is also associated with Rothmund-Thomson syndrome and Baller-Gerold syndrome.