MedTerms Word of the Day

MedTerms Word of the Day

08/19/2017 03:00 AM
Strømme syndrome (Stromme)

Strømme syndrome: a rare genetic condition characterized by birth defects or abnormalities in the eyes, intestines, and skull. The abnormalities vary among affected people, and sometimes problems with the kidneys or heart are also present. The condition results from a mutation in a gene known as CENPF, and it is inherited in an autosomal recessive manner, meaning that to be affected, an individual must receive a copy of the defective gene from each parent.



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