Rapadilino syndrome (RAPADILINO)
- Recq like helicase 4 (RECQL4)
RAPADILINO is a rare, autosomally recessively inherited malformation syndrome. The acronym introduces the main clinical features: RAdial hypo-aplasia PAtellae hypo-aplasia and cleft or highly arched PAlate DIarrhea and DIslocated joints LIttle size and LImb malformation NOse slender and NOrmal intelligence Mutations in the RECQL4 gene, a member of RECQL gene family, can cause RAPADILINO, and also another similar disease, Rothmund-Thomson syndrome. The Finmajor mutation is a splice-site mutation causing in-frame skipping of exon 7. All the Finnish patients are either homozygotes or heterozygotes for the Finmajor mutation.
UMLS Concept names
- C1849453 RAPADILINO SYNDROME