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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.

ORPHA:2614

  • 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

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