Rothmund-Thomson syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome are rare autosomal recessive disorders that are associated with mutations in the DNA helicase RECQL4. RECQL4 belongs to a family of RecQ helicases that are important in the regulation of DNA repair and replication, and constitutes five human members: BLM, WRN, RECQL4, RECQ1 and RECQ5 [1]. The gene discussed is RECQL4; the disease is Rothmund-Thomson syndrome.