| DeSanctis–Cacchione syndrome | |
|---|---|
| Other names | Xeroderma pigmentosum with neurologic manifestation |
 | |
| DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner | |
DeSanctis–Cacchione syndrome or Xeroderma pigmentosum is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis.
Genetics
In at least some case, the gene lesion involves a mutation in the CSB gene.
It can be associated with ERCC6.