De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome
Definition
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Also known as De Sanctis Cacchione Syndrome, de Sanctis-Cacchione syndrome — per MONDO