Abstract
The acronym RIDDLE for radiosensitivity, immunodeficiency, dysmorphic features and learning difficulties, was first reported as a rare syndrome in 2007. Patients suspected to have this condition were noted to have microcephaly with cognitive delay, ataxia, decreased immunoglobulin levels and respiratory difficulties, with features comparable to Ataxia-Telangiectasia (AT) Syndrome. It was 2 years later that the RING finger protein 168 gene (RNF168), also known as RIDDLIN, was implicated in association with RIDDLE Syndrome.
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