Serpentine fibula-polycystic kidney syndrome
| Serpentine fibula-polycystic kidney syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 600330 |
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]
Overview
The syndrome was discovered in June, 1988 by Dr. G. Exner,[3] 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,[4] most research suggests that Exner syndrome is very distinct.[5]
Symptoms
All of the following are usual elements of the syndrome:[6]
- 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.[7]
References
- ↑ Online Mendelian Inheritance in Man (OMIM) SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME -600330
- ↑ Date, C. "SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME" (PDF). 600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME. NCBI. Retrieved 2008-11-07.
- ↑ 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. PMID 3409932.
- ↑ Ramos FJ, Kaplan BS, Bellah RD, Zackai EH, Kaplan P (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. 78 (5): 474–81. doi:10.1002/(SICI)1096-8628(19980806)78:5<474::AID-AJMG14>3.0.CO;2-C. PMID 9714016.
- ↑ Majewski F, Enders H, Ranke MB, Voit T (Nov 1993). "Serpentine fibula—polycystic kidney syndrome and Melnick-Needles syndrome are different disorders". Eur J Pediatr. 152 (11): 916–21. doi:10.1007/BF01957530. PMID 8276023.
- ↑ 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. PMID 8723560.
- ↑ Oeijord, Nils (2002). Genetic Catastrophe! Sneaking Doomsday?: With a Dictionary of Genetic Damage. iUniverse. ISBN 9780595225651.