De sanctis-cacchione syndrome

De Sanctis-Cacchione (DSC) syndrome is a very rare, more severe variant of xerodosa pigmentosum (XP) that also includes mental retardation, numerous neurological abnormalities, dwarfism, and hypogonadism.


De Sanctis–Cacchione syndrome is an inheritable disorder that is passed down as an autosomal recessive trait. This condition exhibits unique features including xeroderma pigmentosum, which is an extreme sensitivity of the skin to sunlight. Additionally, it is associated with impaired intellectual development, growth retardation, and the underdevelopment of the gonads, which refer to the testes or ovaries.


 


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