RIDDLE syndrome

Other names| Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Riddle syndrome is inherited in an autosomal recessive pattern.

RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and Learning difficulties.

## Contents

* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Management
* 5 Epidemiology
* 6 History
* 7 References

## Presentation

The features of this condition include:[citation needed]

* Facial dysmorphism
* Short stature
* Mild motor control and learning difficulties
* Mild ataxia
* Microcephaly
* Normal intelligence
* Conjunctival telangiectasia
* Recurrent sinus infections
* Decreased serum IgA
* Late onset of pulmonary fibrosis
* Increased alpha-fetoprotein
* Increased radiosensitivity

## Genetics

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 (3q29) on the Crick (minus strand).[1]

## Diagnosis

### Differential diagnosis

The DDx is [citation needed]

* Ataxia telangectasia
* Artemis deficiency
* Immunodeficiency 26 (PKCS gene deficiency)
* LIG4 syndrome
* Nijmegen breakage syndrome
* Severe combined immunodeficiency with Cernunnos
* X-linked agammaglobulinemia

## Management

## Epidemiology

This condition is extremely rare. Only four cases have been described up to 2017.[2]

## History

This syndrome was first described by Stewart et al. 2007.[3]

## References

1. ↑ "The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage". Cell 136 (3): 420–34. February 2009. doi:10.1016/j.cell.2008.12.042. PMID 19203578.
2. ↑ "Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings". Frontiers in Immunology 8: 1683. 2017. doi:10.3389/fimmu.2017.01683. PMID 29255463.
3. ↑ "RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling". Proceedings of the National Academy of Sciences of the United States of America 104 (43): 16910–5. October 2007. doi:10.1073/pnas.0708408104. PMID 17940005. Bibcode: 2007PNAS..10416910S.

Classification|

* ICD-10: D82.8
* OMIM: 611943

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External resources|

* Orphanet: 420741

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