Malformative diseases

Articles

• rhizomelic limbs
  28 May 2003

  Etiology:
  Pyruvate dehydrogenase deficiency

• limb deficiency defects
  16 October 2006

  LDD, fetal limb deficiency defect

• otopalatodigital syndrome type 2
  15 May 2008

  OPD2

• autosomal recessive microtia
  9 April 2008

  See also
  Ears
  microtia/anotia
  References
  Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G. A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family. Am J Hum Genet. 2008 Apr;82(4):982-91. PMID: #18394579#

• split-hand/foot malformation with long bone deficiencies
  18 December 2007

  SHFLDs

• CHARGE association
  20 September 2004

  CHARGE syndrome, CHARGE disease, CHARGE association

• Van der Woude syndrome
  12 December 2004

  VWS

• Simpson-Golabi-Behmel syndrome
  10 February 2004

  SGBS, Bulldog syndrome, X-linked dysplasia gigantism syndrome, Golabi-Rosen syndrome, Simpson dysmorphia syndrome

• familial megacalyces
  21 March 2007

  familial non-syndromal megacalyces

• VATER association
  17 May 2004

  VACTERL association, VACTER association

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