Malformative diseases

Articles

• otopalatodigital syndrome type 2
  15 May 2008

  OPD2

• CHILD syndrome
  12 December 2006

  CHILD syndrome associates congenital hemidysplasia with ichthyosiform nevus and limb defects (MIM.308050). It is an X-linked dominant trait with lethality for male embryos.
  A symmetric distribution of this nevus can exceptionally be seen in patients with CHILD syndrome.
  The disorder is caused by mutations in NSDHL (MIM.300275), a gene playing an important role in the cholesterol biosynthetic pathway.
  CHILD syndrome is due to loss of function of an enzyme involved in cholesterol (...)

• Alstrom syndrome
  21 January 2006

  ALMS

• non-syndromic BNOMRD
  21 March 2007

  non-syndromic bilateral non-obstructive multicystic renal dysplasia, non-syndromal BNORD, nonsyndromal diffuse cystic renal dysplasia, non-syndromal DCRD, non-syndromal DRD, non-syndromal diffuse renal dysplasia, non-syndromic bilateral non-obstructive renal dysplasia, isolated bilateral non-obstructive multicystic renal dysplasia (MRD).

• Schinzel phocomelia syndrome
  23 March 2007

  Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome, absence of ulna and fibula with severe limb deficiency

• Proteus syndrome
  25 July 2003

  Definition: Proteus syndrome is a rare, sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. A mosaic activating mutation in AKT1 is associated with the Proteus syndrome. (#21793738#)
  Characteristic manifestations include: overgrowth and hypertrophy of limbs and digits, connective tissue nevus, epidermal nevus and hyperostoses. Various benign and malignant tumors and hamartomas may complicate the clinical course of patients with the syndrome.
  Proteus (...)

• androgen insentivity syndrome
  13 June 2003

  AIS, Reifenstein’s syndrome, complete androgen insensitivity

• diabetic embryopathy
  5 April 2004

  Synopsis
  caudal regression syndrome and sirenomelia
  holoprosencephaly
  References
  Eriksson UJ, Borg LA, Cederberg J, Nordstrand H, Siman CM, Wentzel C, Wentzel P. Pathogenesis of diabetes-induced congenital malformations. Ups J Med Sci. 2000;105(2):53-84. PMID: #11095105#
  Kousseff BG. Diabetic embryopathy. Curr Opin Pediatr. 1999 Aug;11(4):348-52. PMID: #10439209#
  Reece EA, Homko CJ, Wu YK, Wiznitzer A. The role of free radicals and membrane lipids in diabetes-induced congenital (...)

• SITCDKP syndrome
  18 March 2005

  Balci syndrome, Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas, situs inversus totalis with reno-pancreatic dysplasia

• partial deletion of 21q22.2-q22.3
  21 January 2005

  Macroscopical synopsis
  thin marfanoid build
  facial asymmetry
  downward-slanting palpebral fissures
  depressed nasal bridge
  small nose with bulbous tip
  mild mental retardation
  References
  Ehling D, Kennerknecht I, Junge A, Prager B, Exeler R, Behre B, Horst J, Schmitt-John T, Bartsch O, Wirth J. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies. Am J Med Genet. 2004 Dec 15;131A(3):265-72. PMID: (...)

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