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Townes-Brocks syndrome

MIM.107480 16q12.1

Wednesday 22 December 2004

Autosomal dominant disease

Synopsis

- craniofacial anomalies

- cadiovascular anomalies

- digestive anomalies

- genital anomalies (genital malformations)

- unrinary anomalies

  • renal hypoplasia (hypoplastic kidneys)
  • multicystic kidneys
  • Renal dysplasia (dysplastic kidneys)
    • bilateral diffuse renal dysplasia

- limb malformations (anomalies of limbs)

  • radial ray anomalies
    • radial agenesis or radial hypoplasia
    • preaxial polydactyly
    • anomalies of thumbs
      • triphalangeal thumbs
      • supernumerary thumbs
      • broad thumb
      • bifid thumb

Etiology

- germline mutations in SALL1 coding for a putative transcription factor (MIM.602218)

See also

- SALLs (SALL1, SALL2, SALL3, SALL4)

See also

- VACTERL association (VATER association)