/Senior-Boichis syndrome

Senior-Boichis syndrome

Rare Disease

MONDO:0019394

Also Known As

Boichis diseasenephronophthisis-hepatic fibrosis syndrome

Definition

Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.