Orphanet: Patella aplasia/hypoplasia

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Patella aplasia/hypoplasia

Disease definition

Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.


Classification level: Disorder
  • Synonym(s):
    • PTLAH
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q74.1
  • OMIM: 168860
  • UMLS: C1868577
  • MeSH: C535568
  • GARD: 8709
  • MedDRA: -
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