Disease - De Sanctis-Cacchione syndrome
Definition
An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset.
Acronym
DSC
Synonyms
Xerodermic idiocy
Xerodermic idiocy of de Sanctis and Cacchione
Xerodermic idiocy of de Sanctis and Cacchione
Keywords
Disclaimer
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