Rapadilino syndrome
RAPADILINO syndrome is a rare autosomal-recessive syndrome that results from mutations in the RECQL4 gene .
Epidemiology
RAPADILINO syndrome is a rare condition, prevalence is unknown. It is, however, more common and was first described in Finnish populations .
Pathology
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
Siehe auch:
