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DeSanctis–Cacchione syndrome

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Title: DeSanctis–Cacchione syndrome  
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Language: English
Subject: List of diseases (D)
Publisher: World Heritage Encyclopedia

DeSanctis–Cacchione syndrome

DeSanctis–Cacchione syndrome
Classification and external resources
OMIM DiseasesDB 29880

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]


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

It can be associated with ERCC6.[3]

See also


Template:DNA repair-deficiency disorder

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