DeSanctis–Cacchione syndrome
| DeSanctis–Cacchione syndrome | |
|---|---|
| Other names | Xeroderma pigmentosum with neurologic manifestation[1] |
 | |
| DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics |
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]
Genetics
[edit]In at least some case, the gene lesion involves a mutation in the CSB gene.[3]
It can be associated with ERCC6.[4]
Diagnosis
[edit]![[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] | This section is empty. You can help by adding to it. (August 2017) |
See also
[edit]References
[edit]- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: De Sanctis Cacchione syndrome". www.orpha.net. Retrieved 11 October 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ Colella, S.; Nardo, T.; Botta, E.; Lehmann, A. R.; Stefanini, M. (2000). "Identical mutations in the CSB gene associated with either Cockayne syndrome or the de Sanctis-Cacchione variant of xeroderma pigmentosum". Human Molecular Genetics. 9 (8): 1171–1175. doi:10.1093/hmg/9.8.1171. PMID 10767341.
- ^ 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. doi:10.1093/hmg/9.8.1171. PMID 10767341.
External links
[edit]
Categories:
- Pages using the JsonConfig extension
- Genodermatoses
- DNA replication and repair-deficiency disorders
- Rare syndromes
- Syndromes affecting the skin
- Syndromes affecting the eye
- Syndromes affecting head size
- Syndromes with intellectual disability
- Syndromes affecting the nervous system
- Syndromes affecting hearing
- Genodermatoses stubs