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Banki syndrome

Disease definition

Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.

ORPHA:1228

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q68.1
  • OMIM: 109300
  • UMLS: -
  • MeSH: -
  • GARD: 813
  • MedDRA: -

Additional information

Specialised Social Services

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