DeSanctis–Cacchione syndrome
Medical condition
From Wikipedia, the free encyclopedia
DeSanctis–Cacchione syndrome is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis.[2]
Other namesXeroderma pigmentosum with neurologic manifestation[1]
| DeSanctis–Cacchione syndrome | |
|---|---|
| Other names | Xeroderma pigmentosum with neurologic manifestation[1] |
| |
| DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics |