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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:
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.
Treatment
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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.
Rosser EM, Mann NP, Hall CM, Winter RM (Apr 1996). "Serpentine fibula syndrome: expansion of the phenotype with three affected siblings". Clin Dysmorphol. 5 (2): 105–13. doi:10.1097/00019605-199604000-00002. PMID8723560.
Oeijord, Nils (2002). Genetic Catastrophe! Sneaking Doomsday?: With a Dictionary of Genetic Damage. iUniverse. ISBN9780595225651.
Exner GU (Jun 1988). "Serpentine fibula—polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?". Eur. J. Pediatr. 147 (5): 544–6. doi:10.1007/BF00441987. PMID3409932. S2CID31934074.
