RAPADILINO syndrome
| Rapadilino syndrome | |
|---|---|
| Other names | Radial and patellar aplasia, Radial and patellar hypoplasia |
 | |
| Rapadilino syndrome has an autosomal recessive pattern of inheritance. | |
| Specialty | Medical genetics  |
RAPADILINO syndrome is an autosomal recessive disorder characterized by:[1]
- RA: radial ray defect
- PA: patellar aplasia, arched or cleft palate
- DI: diarrhea, dislocated joints
- LI: little (short stature), limb malformation
- NO: slender nose, normal intelligence
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
External links
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