DeSanctis–Cacchione syndrome

DeSanctis–Cacchione syndrome
Other namesXeroderma pigmentosum with neurologic manifestation[1]
DeSanctis–Cacchione syndrome is inherited in an autosomal recessive manner
SpecialtyMedical genetics

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]

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: De Sanctis Cacchione syndrome". www.orpha.net. Retrieved 11 October 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
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