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Proximal symphalangism

ORPHA3250
Synonym(s) Symphalangism, Cushing type
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q70.9
OMIM
UMLS
  • C1861385
MeSH
  • C536223
MedDRA -

Summary

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.

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