Rapadilino Syndrome

RAPADILINO syndrome is an autosomal recessive disorder characterized by:

<li>RA: radial ray defectli> <li>PA: patellar aplasia, arched or cleft palateli> <li>DI: diarrhea, dislocated jointsli> <li>LI: little (short stature), limb malformationli> <li>NO: slender nose, normal intelligenceli>

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.