Xeroderma pigmentosum with neurologic manifestation[1]
DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner
DeSanctis–Cacchione syndrome 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.[2]
Genetics
In at least some case, the gene lesion involves a mutation in the CSB gene.[3]