Serpentine fibula–polycystic kidney syndrome

Symptoms and signs

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.

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.

References

References

1. {{OMIM. 600330. SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME
2. Date, C. "SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME". NCBI.
3. (Apr 1996). "Serpentine fibula syndrome: expansion of the phenotype with three affected siblings". Clin Dysmorphol..
4. Oeijord, Nils. (2002). "Genetic Catastrophe! Sneaking Doomsday?: With a Dictionary of Genetic Damage". iUniverse.
5. Exner GU. (Jun 1988). "Serpentine fibula—polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?". Eur. J. Pediatr..
6. (Aug 1998). "Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity". American Journal of Medical Genetics.
7. (Nov 1993). "Serpentine fibula—polycystic kidney syndrome and Melnick-Needles syndrome are different disorders". Eur. J. Pediatr..