Malformative syndrome
A malformative syndrome is a recognizable pattern of congenital anomalies that are known or thought to be causally related.
Causes
- exogenous causes
- * exogenous toxic
- * ionizing radiations
- * fetal infections
- genetic causes
- * chromosomal anomalies
- * numerical chromosomal anomalies
- * structural chromosomal anomalies
- ** microdeletions
- ** chromosomal rearrangements
- gene mutations
- * 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