RAPADILINO syndrome

Rapadilino syndrome
Rapadilino syndrome
Other names	Radial and patellar aplasia, Radial and patellar hypoplasia
	Rapadilino syndrome has an autosomal recessive pattern of inheritance.

RAPADILINO syndrome is an autosomal recessive disorder characterized by:^[1]

It is more prevalent in Finland than elsewhere in the world.^{[citation needed]} It has been associated with the gene RECQL4.^[2] This is also associated with Rothmund-Thomson syndrome^[3] and Baller-Gerold syndrome.^[4]

References

^ 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

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Classification	D ICD-10: Q87.1 OMIM: 266280 MeSH: C535288 DiseasesDB: 34465
External resources	Orphanet: 3021