Supernumerary Digit Differential Diagnoses

Updated: Feb 13, 2019
  • Author: Luke Lennox, MD; Chief Editor: Dirk M Elston, MD  more...
  • Print
DDx

Diagnostic Considerations

Polydactyly is not often associated with congenital anomalies, except in recognizable syndromes. In one study by Castilla et al, trisomy 13, Meckel syndrome, and Down syndrome accounted for most cases of polydactyly. [12] Down syndrome was associated strongly with duplication of the first digit.

Many other syndromes have been identified to include polydactyly as an associated clinical manifestations, including the following:

  • Acrocallosal syndrome
  • Basal cell nevus syndrome
  • Bardet-Biedl syndrome
  • Biemond syndrome
  • Ectrodactyly-ectodermal dysplasias-cleft lip/palate syndrome
  • Ellis van Creveld syndrome
  • McKusick-Kaufman syndrome
  • Mirror hand deformity (ulnar dimelia) [13]
  • Mohr syndrome
  • Oral-facial-digital syndrome
  • Pallister-Hall syndrome
  • Rubinstein-Taybi syndrome
  • Short rib polydactyly
  • VATER association (vertebral [defects], [imperforate] anus, tracheoesophageal [fistula], radial and renal [dysplasia])

Differential Diagnoses