Medicine:Serpentine fibula-polycystic kidney syndrome
| Serpentine fibula-polycystic kidney syndrome | |
|---|---|
| Other names | Acroosteolysis with osteoporosis and changes in skull and mandible |
| Specialty | Nephrology |
Exner syndrome, also known as serpentine fibula polycystic kidney syndrome,[1] 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.[2]
Symptoms and signs
All of the following are usual elements of the syndrome:[3]
- 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.[4]
Treatment
History
The syndrome was discovered in June, 1988 by Dr. G. Exner,[5] 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,[6] most research suggests that Exner syndrome is very distinct.[7]
References
- ↑ Online Mendelian Inheritance in Man (OMIM) SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME -600330
- ↑ Date, C. "SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME". 600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME. NCBI. http://www.hajdu-cheney.com%2FArticles%2FSerpentine%2520Fibula-Polycystic%2520Kidney%2520Syndrome.pdf. Retrieved 2008-11-07.
- ↑ "Serpentine fibula syndrome: expansion of the phenotype with three affected siblings". Clin Dysmorphol. 5 (2): 105–13. Apr 1996. doi:10.1097/00019605-199604000-00002. PMID 8723560.
- ↑ Oeijord, Nils (2002). Genetic Catastrophe! Sneaking Doomsday?: With a Dictionary of Genetic Damage. iUniverse. ISBN 9780595225651.
- ↑ 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. PMID 3409932.
- ↑ "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. doi:10.1002/(SICI)1096-8628(19980806)78:5<474::AID-AJMG14>3.0.CO;2-C. PMID 9714016. http://www3.interscience.wiley.com/cgi-bin/fulltext/33521/PDFSTART.[|permanent dead link|dead link}}]
- ↑ "Serpentine fibula—polycystic kidney syndrome and Melnick-Needles syndrome are different disorders". Eur. J. Pediatr. 152 (11): 916–21. Nov 1993. doi:10.1007/BF01957530. PMID 8276023.
External links
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