Orphanet: Nail patella syndrome

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Nail-patella syndrome

Disease definition

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.


Classification level: Disorder
  • Synonym(s):
    • Onychoosteodysplasia
    • Turner-Kieser syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: Q87.2
  • OMIM: 161200
  • UMLS: C0027341
  • MeSH: D009261
  • GARD: 7160
  • MedDRA: 10063431

Detailed information


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