Malformative syndrome
From Wikipedia, the free encyclopedia
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]
- exogenous causes
- 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
- 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