Rapadilino syndrome is an autosomal recessive [1 ] congenital disorder characterized by radial and patellar aplasia, short stature, arched or cleft palate, limb malformation, and dislocated joints. It is more prevalent in [1 ] Finland than elsewhere in the world.
It has been associated with
RECQL4. This is also associated with [2 ] Rothmund-Thomson syndrome and Baller-Gerold syndrome. [3 ] [4 ]
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