RAPADILINO syndrome

Definition:

RAPADILINO syndrome is an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation, nose slender and normal intelligence. It is an autosomal recessive disorder caused by mutations in human DNA helicase RECQL4. Unlike its allelic disorders Rothmund-Thomson syndrome and Baller-Gerold syndrome, RAPADILINO syndrome lacks poikiloderma.

References:

[1]. H Annika Siitonen, et al. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet. 2003 Nov 1;12(21):2837-44. [Content Brief]

[2]. H Annika Siitonen, et al. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009 Feb;17(2):151-8. [Content Brief]

[3]. Richard Kellermayer, et al. The versatile RECQL4. Genet Med. 2006 Apr;8(4):213-6. [Content Brief]

[4]. T Dietschy, et al. The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress. Cell Mol Life Sci. 2007 Apr;64(7-8):796-802. [Content Brief]

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