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Ballard syndrome

Disease definition

Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.


Classification level: Disorder
  • Synonym(s):
    • Brachydactyly, combined B and E types
    • Pitt-Williams brachydactyly
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q73.8
  • OMIM: 112440
  • UMLS: C1862163
  • MeSH: -
  • GARD: 959
  • MedDRA: -
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