Malformative associations

Articles

• VATER association
  17 May 2004

  VACTERL association, VACTER association

• omphalocele with absent radial ray complex
  28 August 2007

  omphalocele with absent radial ray (ORR), omphalocele-radial ray aplasia association

• split-hand/foot malformation with long bone deficiency type 1
  1 November 2007

  association tibial agenesis-ectrodactyly, split-hand/foot malformation with long bone deficiency type 1 (SHFLD1)

• dextrocardia-cystic renal dysplasia association
  5 January 2006

  Kramer-Zucker et al. recently showed that cilia of larval zebrafish kidney tubules have a 9+2 configuration and are motile. Disruption of cilia structure or motility resulted in pronephric cyst formations, with left-right asymmetry defects.
  nephronophthisis type 2 (NPHP2) is caused by germline mutations in the inversin gene (INVS) (MIM.243305)(#12872123#)
  Mutations in INVS in infantile NPHP that results in both situs inversus and cardiac septal defects in humans, mice and zebrafish. (...)

• acrorenal malformation association
  6 April 2006

  acrorenal malformative association

• sirenomelia-ectrodactyly association
  29 May 2006

  See also
  sirenomelia
  ectrodactyly
  radial ray defects

• cleft palate, cardiac defect, genital anomalies and ectrodactyly
  1 November 2007

  CCGE, ACFS, acrocardiofacial syndrome, acro-cardio-facial syndrome

• CHARGE association
  20 September 2004

  CHARGE syndrome, CHARGE disease, CHARGE association

• severe combined immunodeficiency syndrome with autosomal recessive familial multiple gastrointestinal atresias
  5 August 2007

  SCID with autosomal recessive familial multiple gastrointestinal atresias

• horseshoe kidney with anorectal agenesis
  24 March 2007

  See also
  horseshoe kidney
  anorectal agenesis
  malformative associations

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