DeSanctis–Cacchione syndrome

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]

DeSanctis–Cacchione syndrome
Other names	Xeroderma pigmentosum with neurologic manifestation[1]
DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner
Specialty	Medical genetics

Genetics

In at least some case, the gene lesion involves a mutation in the CSB gene.^[3]

It can be associated with ERCC6.^[4]

Diagnosis

Treatment

See also

• Xeroderma pigmentosum
• List of cutaneous conditions