Preferred Label : De Sanctis-Cacchione syndrome;
ICD-11 definition : De Sanctis-Cacchione syndrome is a 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.;
Origin ID : 594988031;
Automatic exact mappings (from CISMeF team)
De Sanctis-Cacchione syndrome is a 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.
