OMIM 278800 | DiseasesDB 29880 | |
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 gene.
It can be associated with ERCC6.
References
DeSanctis–Cacchione syndrome Wikipedia(Text) CC BY-SA