DeSanctis–Cacchione syndrome
Medical condition From Wikipedia, the free encyclopedia
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]
| DeSanctis–Cacchione syndrome | |
|---|---|
| Other names | Xeroderma pigmentosum with neurologic manifestation[1] |
| |
| DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics |
Genetics
In at least some case, the gene lesion involves a mutation in the CSB gene.[3]
Diagnosis
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Treatment
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See also
References
External links
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