Malformative syndrome

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).^[1]

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
• List of congenital disorders
• List of ICD-9 codes 740-759: Congenital anomalies
• March of Dimes