Limbs

• 2-3 syndactyly
  17 October 2007

  See also
  pre-axial syndactyly

• pre-axial syndactyly
  17 October 2007

  Types
  1-2 syndactyly
  2-3 syndactyly
  Etiology (Examples)
  Smith-Lemli-Opitz syndrome

• foot postaxial polydactyly
  17 October 2007

  See also
  foot polydactyly
  postaxial polydactyly

• hand postaxial polydactyly
  17 October 2007

  hand post-axial polydactyly

• synpolydactyly type Vordingborg
  12 September 2007

  Definition: axis duplication and dysostosis.
  Etiology
  germline mutations (polyalanine repeat expansion) in HOXD13
  See also
  polyalanine repeat expansions
  References
  Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, Tommerup N, Opitz JM. HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. Am J Med Genet. 2002 Jun 15;110(2):116-21. PMID: (...)

• pre-axial syndactyly
  12 September 2007

  Types
  1-2 syndactyly
  2-3 syndactyly
  Etiology
  Smith-Lemli-Opitz syndrome (SLOS)
  See also
  syndactyly
  limb malformations

• 2-3 toe syndactyly
  12 September 2007

  2/3 toe syndactyly

• brachydactyly type B
  26 August 2007

  Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes.
  Etiology
  BDB is caused by
  heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) in the majority of patients
  point mutations in the bone morphogenetic protein antagonist NOGGIN (#17668388#)
  References
  Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of (...)

• adactylia
  25 July 2007

  See also
  limb malformattions upper limb malformations hand malformations finger malformations

• peromelia
  25 July 2007

  Definition: Severe congenital malformations of limbs, including absence of hand or foot.
  Etiology
  chromosomal anomalies de novo balanced reciprocal t(2; 12)(p25.1;q24.1) (#12002154#)
  References
  Murray RS, Keeling JW, Ellis PM, FitzPatrick DR. Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2;12)(p25.1;q24.1). Clin Dysmorphol. 2002 Apr;11(2):87-90. PMID: (...)

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