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.  
Rapadilino syndrome has an autosomal recessive pattern of
External links [ edit ]
References [ edit ]
^ a b Kaariainen H, Ryoppy S, Norio R (1989). "Rapadlino syndrome with radial and patellar aplasia/hypoplasia as main manifestations". Am J Med Genet. 33 (3): 346–351. doi: 10.1002/ajmg.1320330312. PMID 2801769.
^ Siitonen HA, Kopra O, Kääriäinen H, et al. (November 2003). "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases". Hum. Mol. Genet. 12 (21): 2837–44. doi: 10.1093/hmg/ddg306. PMID 12952869.
^ Yin J, Kwon YT, Varshavsky A, Wang W (October 2004). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway". Hum. Mol. Genet. 13 (20): 2421–30. doi: 10.1093/hmg/ddh269. PMID 15317757.
^ Online Mendelian Inheritance in Man (OMIM) 218600