Serpentine fibula–polycystic kidney syndrome explained

Synonyms:	Acroosteolysis with osteoporosis and changes in skull and mandible
Serpentine fibula–polycystic kidney syndrome
Field:	nephrology

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.^[1]

Symptoms and signs

All of the following are usual elements of the syndrome:^[2]

• 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.^[3]

History

The syndrome was discovered in June, 1988 by Dr. G. Exner,^[4] 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,^[5] most research suggests that Exner syndrome is very distinct.^[6]

Notes and References

1. Web site: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME. Date. C. 600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME. NCBI. 2008-11-07. 2016-03-03. https://web.archive.org/web/20160303212048/http://edu-net.xn--[wyci]nl-m8au/Flora%20en%20fauna/Boeken/Cockroache%3B%20Ecology%2C%20behavior%20%26%20history%20-%20W.J.%20Bell.pdf. dead.
2. Rosser EM, Mann NP, Hall CM, Winter RM . Serpentine fibula syndrome: expansion of the phenotype with three affected siblings . Clin Dysmorphol. . 5 . 2 . 105–13 . Apr 1996 . 8723560 . 10.1097/00019605-199604000-00002 .
3. Book: Oeijord, Nils. Genetic Catastrophe! Sneaking Doomsday?: With a Dictionary of Genetic Damage. iUniverse. 2002. 9780595225651.
4. Exner GU . Serpentine fibula—polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? . Eur. J. Pediatr. . 147 . 5 . 544–6 . Jun 1988 . 3409932 . 10.1007/BF00441987 . 31934074 .
5. Ramos FJ, Kaplan BS, Bellah RD, Zackai EH, Kaplan P . Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity . American Journal of Medical Genetics . 78 . 5 . 474–81 . Aug 1998 . 9714016 . 10.1002/(SICI)1096-8628(19980806)78:5<474::AID-AJMG14>3.0.CO;2-C .
6. Majewski F, Enders H, Ranke MB, Voit T . Serpentine fibula—polycystic kidney syndrome and Melnick-Needles syndrome are different disorders . Eur. J. Pediatr. . 152 . 11 . 916–21 . Nov 1993 . 8276023 . 10.1007/BF01957530 . 11244272 .