aetiology

Last reviewed 01/2018

The aetiology of brachydactyly is variable:

  • most cases are sporadic
  • inherited forms are generally passed in an autosomal dominant fashion
  • associations:
    • syndromes:
      • achondroplasia
      • hereditary multiple exostoses
      • Down's Syndrome
      • cri du chat Syndrome
      • Apert's Syndrome
    • endocrine/metabolic conditions:
      • pseudohypoparathyroidism
      • pseudopseudohypoparathyroidism