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.
Genetics
In at least some case, the gene lesion involves a mutation in the ''
CSB'' gene.
It can be associated with ''
ERCC6''.
Diagnosis
Treatment
See also
*
Xeroderma pigmentosum
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
References
External links
Genodermatoses
DNA replication and repair-deficiency disorders
Rare syndromes
Syndromes affecting the skin
Syndromes affecting the eye
Syndromes affecting head size
Syndromes with intellectual disability
Syndromes affecting the nervous system
Syndromes affecting hearing
{{Genodermatoses-stub