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RAPADILINO syndrome can be caused by mutation in the DNA helicase gene RECQL4. Patients show the syndrome with radial and patellar aplasia or hypoplasia as main features. Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears), cleft or highly arched palate, diarrhea in infancy, small stature, and normal intelligence. There was no parental consanguinity and the parents in all cases were healthy, although the father of 1 sporadic case had had habitual dislocations of 1 knee. The families originated from different parts of Finland. The unusual acronym was derived as follows: RA for radial, PA for both absent/hypoplastic patellas and cleft/high arched palate, DI for diarrhea, as well as dislocated joints, LI for little size and limb malformations, and NO for long, slender nose and normal intelligence.

TYPE: facial anomalies, NO CANCER development, skeletal abnormalities

DNAtraffic protein(s) related to disease: RECQL4 (RTS)

OMIM: 266280

Last modification date: Aug. 22, 2011