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post-axial polydactyly

Tuesday 2 November 2004

Etiology (Examples)

- non-syndromic postaxial polydactyly (isolated postaxial polydactyly)

  • Locus PAPA1 at 7p13 (MIM.174200)
  • Locus PAPA2 at 13q21-q32 (MIM.602085)
  • Locus PAPA3 at 19p13.2-p13.1 (MIM.607324)
  • Locus PAPA4 at 7q22 (MIM.608562)

- syndromic postaxial polydactyly

  • Ellis-van Creveld disease
  • infantile thoracic dystrophy (Jeune syndrome)
  • short rib-polydactyly syndrome type 1 (Saldino-Noonan type)
  • association mesomelic campomelia, polydactyly and Dandy-Walker cyst (11360278)
  • Meckel syndrome (Meckel-Gruber syndrome)
  • Bardet-Bield syndrome (BBS)
  • Smith-Lemli-Opitz syndrome (SLOS)
  • trisomy 13
  • polydactyly-hydrometrocolpos syndrome
  • Weyer acrofacial syndrome
  • Opitz C syndrome
  • Sugarman syndrome
  • Biechoud syndrome
  • Oliver syndrome
  • cleft palate and postaxial polydactyly
  • otopalatodigital syndrome type 2 (OPD2)

See also

- polydactylies

  • preaxial polydactyly

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