Ribosomopathies

By Alex Jones

Description

Affects Ribosomal proteins. It is a collection of disorders in which genetic abnormalities cause imparted biogenesis and function, which results in specific clinical phenotype so.

Effects

Effects

Causes Diamond-Blackfan anemia and in other rare congenital syndromes, Schwachman-Diamond syndrome, Dyskeratosis, Cartilage hair hypo plasma, Treacher Collins syndrome, and 5q-syndrome.

Treatment

Treatment for most Ribosomopathies has been symptomatic