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

References

1. Forci, K.; Alami, M. H.; Bouaiti, E.; Slaoui, M.; Alaoui, A. Mdaghri; Izgua, A. Thimou (June 2020). "Prevalence of congenital malformations at the "les Orangers" maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies". BMC Pediatrics . 3 (20): 272. doi: 10.1186/s12887-020-02179-6 . PMC   7268369 . PMID   32493258.

External links

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