Citation, DOI, disclosures and article data
Citation:
Foster T, Knipe H, RAPADILINO syndrome. Reference article, Radiopaedia.org (Accessed on 30 Sep 2023) https://doi.org/10.53347/rID-72406
RAPADILINO syndrome is a rare autosomal-recessive syndrome that results from mutations in the RECQL4 gene 1.
Epidemiology
RAPADILINO syndrome is a rare condition, prevalence is unknown. It is, however, more common and was first described in Finnish populations 2.
Pathology
The acronym RAPADILINO derives from:
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RA: radial ray anomalies
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PA: patella hypoplasia/aplasia, high arched or cleft palate
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DI: diarrhea and joint dislocation
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LI: little size (small in stature), limb malformations
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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
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