De Sanctis-Cacchione syndrome


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Related to De Sanctis-Cacchione syndrome: xeroderma pigmentosum

De Sanc·tis-Cac·chi·o·ne syn·drome

(de-sahnk'tis kah-shē-ō'nĕ), [MIM*278800]
xeroderma pigmentosum with mental deficiency, dwarfism, and gonadal hypoplasia; autosomal recessive inheritance associated with defective DNA repair following damage by ultraviolet irradiation.

De Sanctis-Cacchione syndrome

An autosomal recessive disorder (OMIM:278800) consisting of xeroderma pigmentosum, mental retardation, retarded growth, gonadal hypoplasia, often with neurologic complications.

Molecular pathology
Defects of ERCC6, which encodes a protein involved in transcription-coupled nucleotide excision repair, cause de Sanctis-Cacchione syndrome.

De Sanctis,

Carlo, Italian psychiatrist, 1888–.
De Sanctis-Cacchione syndrome - xeroderma pigmentosum with mental deficiency, dwarfism, and gonadal hypoplasia.

Cacchione,

Aldo, 20th century Italian psychiatrist.
De Sanctis-Cacchione syndrome - see under De Sanctis