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).

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