Catalog

De Sanctis-Cacchione syndrome

No MMS code

Link to WHO Definition

De Sanctis-Cacchione syndrome – http://id.who.int/icd/entity/594988031

De Sanctis-Cacchione syndrome is a rare disorder characterised 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.