DeSanctis–Cacchione syndrome

MeSH: C535992ORPHA: 1569

Overview

rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

C535992

Orphanet Code

ORPHA:1569
DeSanctis–Cacchione syndrome
MeSHC535992
OrphanetORPHA:1569
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO