Advertisement

Nail-Patella Syndrome

  • Harold ChenEmail author
Living reference work entry

Abstract

In 1820, Chatelain (1951) first observed the nail-patella syndrome in a patient with a triad of abnormal nails, elbows, and knees. The hereditary nature of the syndrome was first described by Pye-Smith in 1883 in the English literature. The presence of iliac horns was first noted by Kieser (1939) in 1939 and later by Fong (1946) in 1946. In 1948, Mino et al. described the tetrad of abnormal nails, elbows, knees, and iliac horns for which the name hereditary onycho-osteodysplasia was coined by Duncan and Souter in 1963.

Keywords

Radial Head Club Foot Preimplantation Genetic Diagnosis Patella Dislocation Facial Dysmorphism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Al-Dawsari, N., Al-Mokhadam, A., Al-Abdulwahed, H., et al. (2015). Nail-patella syndrome: A report of a Saudi Arab family with an autosomal recessive inheritance. Journal of Cutaneous Medicine and Surgery, 19, 595–599.CrossRefPubMedGoogle Scholar
  2. Beals, R. K., & Eckhardt, A. L. (1969). Hereditary onycho-osteodysplasia (nail-patella syndrome). A report of nine kindreds. Journal of Bone and Joint Surgery (American Volume), 51, 505–516.Google Scholar
  3. Bennett, W. M., Musgrave, J. E., Campbell, R. A., et al. (1973). The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred. The American Journal of Medicine, 54, 304–319.CrossRefPubMedGoogle Scholar
  4. Bernhang, A. M., & Levine, S. A. (1973). Familial absence of the patella. Journal of Bone and Joint Surgery (American Volume), 55, 1088–1090.Google Scholar
  5. Bicknell, L. S., Bongers, E. M. H. F., Leitch, A., et al. (2011). Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics, 43, 356–359.CrossRefPubMedPubMedCentralGoogle Scholar
  6. Bongers, E. M., Gubler, M. C., & Knoers, N. V. (2002). Nail-patella syndrome. Overview on clinical and molecular findings. Pediatric Nephrology, 17, 703–712.CrossRefPubMedGoogle Scholar
  7. Bongers, E. M., Duijf, P. H., van Beersum, S. E., et al. (2004). Mutations in the human TBX4 gene cause small patella syndrome. American Journal of Human Genetics, 74, 1239–1248.CrossRefPubMedPubMedCentralGoogle Scholar
  8. Bongers, E. M., Huysmans, F. T., Levtchenko, E., et al. (2005a). Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. European Journal of Human Genetics, 13, 935–946.CrossRefPubMedGoogle Scholar
  9. Bongers, E. M., van Kampen, A., van Bokhoven, H., et al. (2005b). Human syndromes with congenital patellar anomalies and the underlying gene defects. Clinical Genetics, 68, 302–319.CrossRefPubMedGoogle Scholar
  10. Borochowitz, Z., Soudry, M., & Mendes, D. G. (1988). Familial recurrent dislocation of patella with autosomal dominant mode of inheritance. Clinical Genetics, 33, 1–4.CrossRefPubMedGoogle Scholar
  11. Braun, H.-S. (1978). Familial aplasia or hypoplasia of the patella. Clinical Genetics, 13, 350–352.CrossRefPubMedGoogle Scholar
  12. Browning, M. C., Weidner, N., & Lorentz, W. B., Jr. (1988). Renal histopathology of the nail-patella syndrome in a two-year-old boy. Clinical Nephrology, 29, 210–213.PubMedGoogle Scholar
  13. Burkhart, C. G., Bhumbra, R., & Iannone, A. M. (1980). Nail-patella syndrome. A distinctive clinical and electron microscopic presentation. Journal of the American Academy of Dermatology, 3, 251–256.CrossRefPubMedGoogle Scholar
  14. Campeau, P. M., Kasperaviciute, D., Lu, J. T., et al. (2014). The genetic basis of DOORS syndrome: An exome-sequencing study. Lancet Neurology, 13, 44–58.CrossRefPubMedPubMedCentralGoogle Scholar
  15. Cantwell, R. J. (1975). Congenital sensory neural deafness associated with onycho-osteodystrophy and mental retardation (D.O.O.R. syndrome). Humangenetik, 26, 261–265.PubMedGoogle Scholar
  16. Carbonara, P., & Alpert, M. (1964). Hereditary osteo-onycho-dysplasia (HOOD). The American Journal of the Medical Sciences, 248, 139–151.CrossRefPubMedGoogle Scholar
  17. Carter, C., & Sweetnam, R. (1960). Recurrent dislocation of the patella and of the shoulder: Their association with familial joint laxity. Journal of Bone and Joint Surgery (British Volume), 42, 721–727.Google Scholar
  18. Chatelain: Quoted by Roeckerath, W. (1951). Heredtaire osteo-onycho-dysplasia. Fortschritte auf dem Gebiete der Röntgenstrahlen, 75, 709.Google Scholar
  19. Chen, H., Lun, Y., Ovchinnikov, D., et al. (1998). Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nature Genetics, 19, 51–55.CrossRefPubMedGoogle Scholar
  20. Chua, H. L., Tan, L. K., Tan, H. K., et al. (2002). The course of pregnancy in a patient with nail-patella syndrome. Annals of the Academy of Medicine, Singapore, 31, 349–352.PubMedGoogle Scholar
  21. Cormier-Daire, V., Chauvet, M. L., Lyonnet, S., et al. (2000). Genitopatellar syndrome: A new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. Journal of Medical Genetics, 37, 520–524.CrossRefPubMedPubMedCentralGoogle Scholar
  22. Cottereill, C. P., & Jacobs, P. (1961). Hereditary arthro-osteo-onchyodysplasia associated with iliac horns. British Journal of Clinical Practice, 15, 933–941.PubMedGoogle Scholar
  23. Darlington, D., & Hawkins, C. F. (1967). Nail patella syndrome with iliac horns and hereditary nephropathy: Necropsy report and anatomical dissection. Journal of Bone and Joint Surgery (American Volume), 49B, 164–174.Google Scholar
  24. Dreyer, S. D., Zhou, G., Baldini, A., et al. (1998). Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nature Genetics, 19, 47–50.CrossRefPubMedGoogle Scholar
  25. Duncan, J. G., & Souter, W. A. (1963). Hereditary onycho-osteodysplasia. The nail-patella syndrome. Journal of Bone and Joint Surgery, 45-B, 242–258.Google Scholar
  26. Dunston, J. A., Lin, S., Park, J. W., et al. (2005a). Phenotype severity and genetic variation at the disease locus: An investigation of nail dysplasia in the nail patella syndrome. Annals of Human Genetics, 69(Pt 1), 1–8.CrossRefPubMedGoogle Scholar
  27. Dunston, J. A., Reimschisel, T., Ding, Y. Q., et al. (2005b). A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. European Journal of Human Genetics, 13, 330–335.CrossRefPubMedGoogle Scholar
  28. Eisenberg, K. S., Potter, D. E., & Bovill, E. G., Jr. (1972). Osteo-onychodystrophy with nephropathy and renal osteodystrophy. A case report. Journal of Bone and Joint Surgery (American Volume), 54, 1301–1305.Google Scholar
  29. Feingold, M., Itzchak, Y., & Goodman, R. M. (1998). Ultrasound prenatal diagnosis of the nail-patella syndrome. Prenatal Diagnosis, 18, 854–856.CrossRefPubMedGoogle Scholar
  30. Figueroa-Silva, O., Vicente, A., Agudo, A., et al. (2016). Nail-patella syndrome: Report of 11 pediatric cases. Journal of the European Academy of Dermatology and Venereology. [Epub ahead of print].Google Scholar
  31. Fong, E. E. (1946). ‘Iliac horns’ (symmetrical bilateral central posterior iliac processes): A case report. Radiology, 47, 517–518.CrossRefPubMedGoogle Scholar
  32. Ghoumid, J., Petit, F., Holder-Espinasse, M., et al. (2015). Nail-patella syndrome: Clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. European Journal of Human Genetics, 2015, 1–7.Google Scholar
  33. Gong, Y., Yang, C., Liu, Y., et al. (2016). Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. Experimental and Therapeutic Medicine, 11, 2361–2364.PubMedPubMedCentralGoogle Scholar
  34. Goshen, E., Schwartz, A., Zilka, L. R., et al. (2000). Bilateral accessory iliac horns: Pathognomonic findings in nail-patella syndrome. Scintigraphic evidence on bone scan. Clinical Nuclear Medicine, 25, 476–477.CrossRefPubMedGoogle Scholar
  35. Guidera, K. J., Satterwhite, Y., Ogden, J. A., et al. (1991). Nail patella syndrome: A review of 44 orthopaedic patients. Journal of Pediatric Orthopedics, 11, 737–742.CrossRefPubMedGoogle Scholar
  36. James, A. W., Miranda, S. G., Culver, K., et al. (2007). DOOR syndrome: Clinical report, literature review and discussion of natural history. American Journal of Medical Genetics, 143A, 2821–2831.CrossRefPubMedGoogle Scholar
  37. Jiang, S., Zhang, J., Huang, D., et al. (2014). A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome. International Journal of Molecular Sciences, 15, 20158–20168.CrossRefPubMedPubMedCentralGoogle Scholar
  38. Jones, K. L. (1997). Trisomy 8 syndrome. In K. L. Jones (Ed.), Smith’s recognizable patterns of human malformation (5th ed., pp. 24–27). Philadelphia: WB Saunders.Google Scholar
  39. Kääriäinen, H., Ryöppy, S., & Norio, R. (1989). RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. American Journal of Medical Genetics, 33, 346–351.CrossRefPubMedGoogle Scholar
  40. Kieser, W. (1939). Die sog Flughaut beim Menschen. Ihre Beziehung zum Status Dysraphicus und ihre Erblichkeit. Zeitchr f Menschl Vererb u Konstitutionslehre, 23, 594–619.Google Scholar
  41. Konrads, C., Reppenhagen, S., Plumhoff, P., et al. (2016). Nail-patella-syndrome in a young patient followed up over 10 years: Relevance of the sagittal trochlear septum for patellofemoral pathology. SICOT Journal, 2, 26. [Epub ahead of print].CrossRefGoogle Scholar
  42. Leahy, M. S. (1966). The hereditary nephropathy of osteo-onychodysplasia. Nail-patella syndrome. American Journal of Diseases of Children, 112, 237–241.CrossRefPubMedGoogle Scholar
  43. Lee, B. H., Cho, T. J., Choi, H. J., et al. (2009). Clinico-genetic study of nail-patella syndrome. Journal of Korean Medical Science, 24, 82–86.CrossRefGoogle Scholar
  44. Looij, B. J., Jr., te Slaa, R. L., Hogewind, B. L., et al. (1988). Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail- patella syndrome) with nephropathy. Journal of Medical Genetics, 25, 682–686.CrossRefPubMedPubMedCentralGoogle Scholar
  45. Lucas, G. L., & Opitz, J. M. (1966). The nail-patella syndrome: Clinical and genetic aspects of 5 kindreds with 38 affected family members. Journal of Pediatrics, 68, 273–288.CrossRefGoogle Scholar
  46. Mangino, M., Sanchez, O., Torrente, I., et al. (1999). Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. American Journal of Human Genetics, 65, 441–447.CrossRefPubMedPubMedCentralGoogle Scholar
  47. McIntosh, I., Dreyer, S. D., Clough, M. V., et al. (1998). Mutation analysis of LMX1B gene in nail-patella syndrome patients. American Journal of Human Genetics, 63, 1651–1658.CrossRefPubMedPubMedCentralGoogle Scholar
  48. McIntosh, I., Clough, M. V., Gak, E., et al. (1999). Prenatal diagnosis of nail-patella syndrome [letter]. Prenatal Diagnosis, 19, 287–288.CrossRefPubMedGoogle Scholar
  49. McIntosh, I., Dunston, J. A., Liu, L., et al. (2005). Nail patella syndrome revisited: 50 years after linkage. Annals of Human Genetics, 69(Pt 4), 349–363.CrossRefPubMedGoogle Scholar
  50. Miller, G. F. (1978). Familial recurrent dislocation of the patella. Journal of Bone and Joint Surgery (British Volume), 60, 203–204.Google Scholar
  51. Morita, T., Laughlin, L. O., Kawano, K., et al. (1973). Nail-patella syndrome. Light and electron microscopic studies of the kidney. Archives of Internal Medicine, 131, 271–277.CrossRefPubMedGoogle Scholar
  52. Neri, I., Piccolo, V., Balestri, R., et al. (2015). Median nail damage in nail-patella syndrome associated with triangular lunulae. British Journal of Dermatology, 173, 1556–1570.CrossRefGoogle Scholar
  53. Nevin, N. C., Thomas, P. S., Calvert, J., et al. (1982). Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome. American Journal of Medical Genetics, 13, 325–332.CrossRefPubMedGoogle Scholar
  54. Sankararaman, S., Kurepa, D., Patra, K., et al. (2012). Another case of genitopatellar syndrome: A case report with additional rare coexistences. Clinical Dysmorphology, 21, 226–228.CrossRefPubMedGoogle Scholar
  55. Senior, B. (1971). Impaired growth and onychodysplasia: Short children with tiny toenails. American Journal of Diseases of Children, 122, 7–9.CrossRefPubMedGoogle Scholar
  56. Shalev, S. A., & Hall, J. G. (2003). Another adult with Meier-Gorlin syndrome – Insights into the natural history. Clinical Dysmorphology, 12, 167–169.PubMedGoogle Scholar
  57. Siitonen, H. A., Sotkasiira, J., Biervliet, M., et al. (2009). The mutation spectrum in RECQL4 diseases. European Journal of Human Genetics, 17, 151–158.CrossRefPubMedGoogle Scholar
  58. Sweeney, E., Fryer, A., Mountford, R., et al. (2003). Nail patella syndrome: A review of the phenotype aided by developmental biology. Journal of Medical Genetics, 40, 153–162.CrossRefPubMedPubMedCentralGoogle Scholar
  59. Sweeney, E., Hoover-Fong, J. E., & McIntosh, I. (2014). Nail-patella syndrome. GeneReviews. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1132/. Retrieved 13 Nov 2014.
  60. Tigchelaar, S., de Rooy, J., Hannink, G., et al. (2016). Radiological characteristics of the knee joint in nail patella syndrome. Bone & Joint Journal, 98-B, 483–489.CrossRefGoogle Scholar
  61. Towers, A. L., Clay, C. A., Sereika, S. M., et al. (2005). Skeletal integrity in patients with nail patella syndrome. Journal of Clinical Endocrinology and Metabolism, 90, 1961–1965.CrossRefPubMedGoogle Scholar
  62. Vergano, S. S., & Deardorff, M. A. (2014). Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. American Journal of Medical Genetics, 166C, 252–256.CrossRefPubMedGoogle Scholar
  63. Verloes, A., Bonneau, D., Guidi, O., et al. (1993). Brachymorphism-onychodysplasia-dysphalangism syndrome. Journal of Medical Genetics, 30, 158–161.CrossRefPubMedPubMedCentralGoogle Scholar
  64. Wieczorek, D., Bogershausen, N., Beleggia, F., et al. (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22, 5121–5135.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

Personalised recommendations