DeSanctis–Cacchione syndrome

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DeSanctis–Cacchione syndrome
Autosomal recessive - en.svg
DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner
Classification and external resources
OMIM 278800
DiseasesDB 29880
MeSH C535992
Orphanet 1569

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.[1]

Genetics[edit]

In at least some case, the gene lesion involves a mutation in the CSB gene.[2]

It can be associated with ERCC6.[3]

Diagnosis[edit]

Treatment[edit]

See also[edit]

References[edit]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ http://hmg.oxfordjournals.org/cgi/content/full/9/8/1171?view=long&pmid=10767341
  3. ^ Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M (May 2000). "Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum". Hum. Mol. Genet. 9 (8): 1171–5. PMID 10767341. doi:10.1093/hmg/9.8.1171.