DeSanctis–Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive mental retardation, retarded growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis.

Genetics

In at least some case, the gene lesion involves a mutation in the CSB

Cockayne syndrome

Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...

gene.

It can be associated with ERCC6

ERCC6

DNA excision repair protein ERCC-6 is a protein that in humans is encoded by the ERCC6 gene.-External links:*...

.