Exner syndrome, also known as serpentine fibula polycystic kidney syndrome, is a rare disorder, typified by the afflicted person having oddly formed, s-shaped fibulas as well as the development of numerous cysts in the kidneys.
Symptoms
All of the following are usual elements of the syndrome:
Short stature
Abnormal calf bone shape (fibula)
Unusual facial appearance
Polycystic kidneys
Abnormally long fibula
Mild sunken chest
Large corneas
Inguinal hernia
Umbilical hernia
Diagnosis
Exner syndrome is sometimes misdiagnosed as interstitial cystitis in its very early stages, but once the fibula begins to malform, Exner is the only real diagnosis. [Source: Wikipedia ]