Skip to Content

De Sanctis-Cacchione syndrome

Pronunciation: de-sahnk'tis kah-she-o'ne

Definition: xeroderma pigmentosum with mental deficiency, dwarfism, and gonadal hypoplasia; autosomal recessive inheritance associated with defective DNA repair following damage by ultraviolet irradiation.

Further information

Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

Hide