DeSanctis–Cacchione syndrome
DeSanctis–Cacchione syndrome or Xeroderma pigmentosum is a Genetic 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 | edit source]
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 | edit source]
![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (August 2017) |
Treatment[edit | edit source]
See Xeroderma pigmentosum for more information.
| This section is empty. You can help by adding to it. (August 2017) |
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.- Articles to be expanded from August 2017
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- Genodermatoses
- DNA replication and repair-deficiency disorders
- Rare syndromes
- Syndromes affecting the skin
- Syndromes affecting the eyes
- Syndromes affecting head size
- Syndromes with mental retardation
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Contributors: Prab R. Tumpati, MD
