DeSanctis–Cacchione syndrome

Medical condition

DeSanctis–Cacchione syndrome
Other names	Xeroderma pigmentosum with neurologic manifestation

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.

Genetics

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

It can be associated with ERCC6.

Diagnosis

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Treatment

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References

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

Classification	D OMIM: 278800 MeSH: C535992 DiseasesDB: 29880
External resources	Orphanet: 1569

Metabolic disease: DNA replication and DNA repair-deficiency disorder

DNA replication

Separation/initiation: RNASEH2A
- Aicardi–Goutières syndrome 4

Termination/telomerase: DKC1
- Dyskeratosis congenita

DNA repair

Nucleotide excision repair	Cockayne syndrome/DeSanctis–Cacchione syndrome Thymine dimer Xeroderma pigmentosum IBIDS syndrome
MSI/DNA mismatch repair	Hereditary nonpolyposis colorectal cancer Muir–Torre syndrome Mismatch repair cancer syndrome
MRN complex	Ataxia–telangiectasia Nijmegen breakage syndrome
Other	RecQ helicase Bloom syndrome Werner syndrome Rothmund–Thomson syndrome/RAPADILINO syndrome Fanconi anemia Li–Fraumeni syndrome Severe combined immunodeficiency

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Categories:

Genetics

Diagnosis

Treatment

See also

References

External links