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RAPADILINO syndrome is a rare autosomal-recessive syndrome that results from mutations in the RECQL4 gene 1.
RAPADILINO syndrome is a rare condition, prevalence is unknown. It is, however, more common and was first described in Finnish populations 2.
The acronym RAPADILINO derives from:
- RA: radial ray anomalies
- PA: patella hypoplasia/aplasia, high arched or cleft palate
- DI: diarrhea and joint dislocation
- LI: little size (small in stature), limb malformations
- NO: normal intelligence, long slender nose
- 1. Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (2003) Human molecular genetics. 12 (21): 2837-44. doi:10.1093/hmg/ddg306 - Pubmed
- 2. Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, Peltonen, Leena, Kestilä, Marjo. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (2003) Human Molecular Genetics. 12 (21): 2837. doi:10.1093/hmg/ddg306