Serpentine fibula–polycystic kidney syndrome

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 and signs

All of the following are usual elements of the syndrome:

Short stature
Abnormal calf bone shape
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.

History

The syndrome was discovered in June, 1988 by Dr. G. Exner, a researcher at Orthopädische Universitätsklinik Balgrist in Zurich, Switzerland. Exner officially named the disorder serpentine fibula polycystic kidney syndrome, but the term "Exner syndrome" became more prevalent. While some research links it to other, related disorders, most research suggests that Exner syndrome is very distinct.