Malformations

Articles

• polydactylies
  31 August 2004

  polydactyly

• radial ray aplasia
  9 May 2005

  Synopsis
  radial agenesis (radial aplasia)
  thumb agenesis
  Associations: Syndromal types
  VATER association (VACTERL association)
  Fanconi disease (Fanconi syndrome or Fanconi anemia)
  Pallister-Hall syndrome
  Cateye syndrome
  Duane anomaly with thenar hypoplasia (Duane-radial ray syndrome or Okihiro syndrome) (MIM.607323) (SALL4 mutations)
  craniosynostosis with radial defects
  Baller-Gerold syndrome (MIM.218600)
  Saethre-Chotzen syndrome (SCS) (MIM.101400)
  hemifacial (...)

• adactylia
  25 July 2007

  See also
  limb malformattions upper limb malformations hand malformations finger malformations

• thumb hypoplasia
  21 March 2007

  hypoplastic thumbs

• fetal upper limb anomalies
  5 January 2005

  Types
  fetal upper limb deformations
  fetal upper limb malformations
  Localization
  fetal hand anomalies fetal palmar anomalies

• central polydactyly
  6 September 2005

  Definition: Central type polydactyly corresponds to the presence of centrally located supernumerary fingers. It is often associated with other malformations or syndromes.
  See also
  polydactylies

• meromelia
  5 February 2008

  limbs reduction, limb reduction

• limb hypoplasia
  1 November 2004

  See also
  Case record #10087
  Case record #10645
  Associations
  caudal regression syndromes caudal regression syndrome with lumbosacral agenesis
  caudal anomalies anorectal atresia with rectovesical fistula
  See also
  Malformations limb malformations
  fetal limb anomalies

• foot polysyndactyly
  1 December 2004
• polysyndactyly
  1 December 2004

  Etiology (exemples)
  Greig cephalopolysyndactyly syndrome (MIM.175700) (GLI3 mutations at 7p13)
  acrocephalopolysyndactyly syndromes (ACPS) ACPS1 (acrocephalopolysyndactyly type 1) ACPS2 (acrocephalopolysyndactyly type 2) (Carpenter syndrome) (MIM.201000) ACPS3 (acrocephalopolysyndactyly type 3) (Sakati-Nyhan syndrome) (MIM.101120) ACPS4 (acrocephalopolysyndactyly type 4) (Goodman syndrome) (MIM.201020)
  triphalangeal thumb-polysyndactyly syndrome (MIM.190605) (7q36)
  See also: (...)

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