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

Differential 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.