Orphanet: Talo patello scaphoid osteolysis
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Talo-patello-scaphoid osteolysis

Disease definition

Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.

ORPHA:50809

Classification level: Disorder
  • Synonym(s):
    • Singh-Williams-McAlister syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: M89.5
  • OMIM: 609655
  • UMLS: C1864784
  • MeSH: -
  • GARD: 10061
  • MedDRA: -

  A summary on this disease is available in Deutsch (2014) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf) Polski (2014)

Additional information

Further information on this disease

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