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Proximal symphalangism

Disease definition

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

ORPHA:3250

Classification level: Disorder
  • Synonym(s):
    • Symphalangism, Cushing type
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q70.9
  • OMIM: 185800  615298
  • UMLS: C1861385
  • MeSH: C536223
  • GARD: 8182
  • MedDRA: -
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