Malformative syndrome

This article needs more reliable medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed. Find sources: "Malformative syndrome" – news · newspapers · books · scholar · JSTOR (June 2019)

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).

• 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

• 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

• CDC’s National Center on Birth Defects and Developmental Disabilities
• Congenital Anomalies, official journal of the