Malformative Syndrome

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Retrieved
2021-01-18
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A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).

Causes

  • exogenous causes
    • exogenous toxic (teratogenetic agents)
    • ionizing radiations
    • fetal infections (maternofetal 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 syndrome, Meckel syndrome and related syndromes: TMEM216
    • cleft lip with and without cleft palate: MAFB and ABCA4
    • Schinzel–Giedion syndrome: SETBP1
    • Fanconi anemia and related disorders: RAD51C
    • Noonan syndrome: NRAS
    • generalized lymph vessel dysplasia: CCBE1
    • brachydactyly-anonychia: SOX9
    • genetic metabolic diseases
      • Smith–Lemli–Opitz syndrome

See also

  • Congenital abnormality
  • Malformative syndrome
  • ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
  • List of congenital disorders
  • List of ICD-9 codes 740-759: Congenital anomalies
  • March of Dimes