# DeSanctis–Cacchione syndrome

> rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities

**Wikidata**: [Q3843801](https://www.wikidata.org/wiki/Q3843801)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/DeSanctis–Cacchione_syndrome)  
**Source**: https://4ort.xyz/entity/desanctis-cacchione-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum