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malformative syndromes

Monday 5 April 2004

Definition: A malformative syndrome (malformation syndrome) is a recognizable pattern of anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).


- malformative sequences
- malfornative associations


- exogenous causes

  • exogenous toxic (teratogenetic agents)
  • ionizing radiations
  • fetal infections

- genetic causes (or intrinsic causes) (genetic malformative diseases)

  • chromosomal anomalies (chromosomal malformative diseases)
    • numerical chromosomal anomalies (e.g. trisomy 13, trisomy 18, trisomy 21)
    • structural chromosomal anomalies
      • microdeletions (microdeletion syndromes)
      • chromosomal rearrangements
  • gene mutations (monogenic malformative diseases)
    • Kabuki mask syndrome: MLL2
    • Joubert, Meckel and related syndromes: TMEM216
    • cleft lip with and without cleft palate: MAFB and ABCA4
    • Schinzel-Giedion syndrome: SETBP1
    • Fanconi anemia-like disorder: RAD51C
    • Noonan syndrome: NRAS
    • generalized lymph vessel dysplasia: CCBE1
    • brachydactyly-anonychia: SOX9
    • genetic metabolic diseases
      • Smith-Lemli-Opitz syndrome

See also

- malformative combination (malformation combination)

  • malformative sequence (malformation sequence)
  • malformative association (malformation association)