RIDDLE syndrome
RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and LEarning difficulties.Presentation
The features of this condition include:
This condition is due to mutations in the RNF168 gene. It is inherited in an autosomal recessive fashion.The gene encodes a ubiquitin ligase and is located on the long arm of chromosome 3 on the Crick.Diagnosis
Epidemiology
This condition is rare. Only four cases have been described up to 2017.History
This syndrome was first described by Stewart et al. 2007.