Conditions / Syndrome
De Sanctis-Cacchione syndrome
info · Syndrome
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
Signs and symptoms
- Hypermelanotic macule
- Olivopontocerebellar atrophy
- Equinovarus deformity
- Telangiectasia
- Leukodystrophy
- Mental deterioration
- Intellectual disability
- Hyporeflexia
- Microcephaly
- Cutaneous photosensitivity
Also known as: xeroderma pigmentosum with neurologic manifestation