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 List of congenital disorders List of ICD-9 codes 740-759: Congenital anomalies March of Dimes
References
External links CDC's National Center on Birth Defects and Developmental Disabilities Congenital Anomalies, official journal of the