"RA: radial ray anomalies"
"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"
"NO: normal intelligence, long slender nose"
"RA: radial ray anomalies"
"PA: patella hypoplasia/aplasia, high arched or cleft palate"
"DI: diarrhoea and joint dislocation"
"LI: little size (small in stature), limb malformations"
"NO: normal intelligence, long slender nose"