Rapadilino syndrome

Rapadilino syndrome Classification and external resources
OMIM	266280

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.^[1] It is more prevalent in Finland than elsewhere in the world.

It has been associated with RECQL4.^[2] This is also associated with Rothmund-Thomson syndrome.^[3]

Rapadilino syndrome has an autosomal recessive pattern of inheritance.

[edit] References

^ ^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. 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.

v • d • e

Upper limbs	Cleidocranial dysostosis - Madelung's deformity - Sprengel's deformity - Wallis Zieff Goldblatt syndrome

Lower limbs	hip: Dislocation of hip/Hip dysplasia - Upington disease knee: Genu valgum - Genu varum feet: Club foot - Flat feet - Pes cavus

Upper and/or lower limbs	dactyly: Polydactyly/Syndactyly (Webbed toes) - Arachnodactyly - Cenani Lenz syndactylism reduction deficits: Acheiropodia - Amelia - Ectrodactyly - Phocomelia multiple joints: Arthrogryposis - Larsen syndrome - Rapadilino syndrome