Part III: Nail-Patella Syndrome

January 2015 | Volume 14 | Issue 1 | Features | 85 | Copyright © January 2015

Kristen Lo Sicco MD, Mona Sadeghpour MD, Laura K. Ferris MD PhD

Department of Dermatology, University of Pittsburgh, Pittsburgh, PA

table 1
have asymptomatic proteinuria or microscopic hematuria, less than 20% of patients progress to nephrotic syndrome and 10% develop renal failure necessitating dialysis or transplantation.4
In a murine model, the LMX1B gene is expressed in the developing structures important for aqueous drainage and production including the anterior segment, the trabecular meshwork and the ciliary body respectively. Compared to 1-2% of the general population 40 years or older, approximately 33% of NPS patients develop the most common type of glaucoma, openangle. If untreated, patients may develop asymptomatic visual field loss and ultimately blindness.5
table 2
In conclusion, NPS is a relatively rare inherited disorder that affects bones, eyes, kidneys and nails. Although it usually does not impact lifespan, NPS may have significant implications regarding quality of life.


The authors have no conflicts of interest to declare.


  1. Burghardt T, Kastner J, Suleiman H, et al. LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys. J Am Soc Nephrol. 2013;24(11):1830-48. doi: 10.1681/ASN.2012080788. Epub 2013 Aug 29.
  2. Chaturvedi S, Pulimodd A, Agarwal I. Quiz page December 2013: Hypoplastic nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease). Am J Kidney Dis. 2013;62(6):A25-7. doi: 10.1053/j.ajkd.2013.05.027.
  3. Goshen E, Schwartz A, Zilka LR, et al. Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan. Clin Nucl Med. 2000;25(6): 476-7.
  4. Paller, Amy and Anthony Mancini. " Disorders of Hair and Nails." Hurwitz Clinical Pediatric Dermatology. Ed 4. Philadelphia: Elsevier, 2011. Pg 162. Print.
  5. Park S, Jamshidi Y, Vaideanu D, et al. Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. Invest Ophthalmol Vis Sci. 2009 Apr; 50(4):1522-30. doi: 10.1167/iovs.08-2483. Epub 2008 Oct 24.
  6. Roeckerath W. Hereditary osteo-onychodysplasia. Fortschr Geb Rontgenstr. 1951;75(6):700-12.
  7. Towers AL, Clay CA, Sereika SM, et al. Skeletal integrity in patients with nail patella syndrome. J Clin Endocrinol Metab. 2005; Apr;90(4):1961-5. Epub 2004 Dec 28.


Kristen Lo Sicco