Rapadilino syndrome

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DiseasesDB = 34465
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OMIM = 266280
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Rapadilino syndrome is an autosomal recessivecite journal |author=Kaariainen H, Ryoppy S, Norio R |title=Rapadlino syndrome with radial and patellar aplasia/hypoplasia as main manifestations |journal=Am J Med Genet. |volume=33 |issue=3 |pages=346-351 |year=1989 |pmid=2801769 ] 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.cite journal |author=Siitonen HA, Kopra O, Kääriäinen H, "et al" |title=Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases |journal=Hum. Mol. Genet. |volume=12 |issue=21 |pages=2837–44 |year=2003 |month=Nov |pmid=12952869 |doi=10.1093/hmg/ddg306 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12952869] This is also associated with Rothmund-Thomson syndromecite journal |author=Yin J, Kwon YT, Varshavsky A, Wang W |title=RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway |journal=Hum. Mol. Genet. |volume=13 |issue=20 |pages=2421–30 |year=2004 |month=Oct |pmid=15317757 |doi=10.1093/hmg/ddh269 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=15317757] and Baller-Gerold syndrome. [OMIM|218600]

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