Epstein syndrome
Overview
A rare condition characterized by deafness, kidney inflammation, a reduced number of normal blood platelets needed for clotting and the presence of large blood platelets.
Symptoms
- Nephropathy
- Hearing loss
- Increased risk of hemorrhage
- Prolonged bleeding time
- Enlarged blood platelets
Causes
Epstein syndrome is caused by heterozygous mutation in the gene encoding the nonmuscle myosin heavy chain-9 gene (MYH9; 160775) on chromosome 22q11.