Last revised by Henry Knipe on 23 Nov 2019

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

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