Home > D. General pathology > Genetic and developmental anomalies > malformative syndromes
malformative syndromes
Monday 5 April 2004
Definition: A malformative syndrome (malformation syndrome) is a recognizable pattern of anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).
Types
malformative sequences
malfornative associations
Etiology
exogenous causes
- exogenous toxic (teratogenetic agents)
- ionizing radiations
- fetal 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, Meckel and related syndromes: TMEM216
- cleft lip with and without cleft palate: MAFB and ABCA4
- Schinzel-Giedion syndrome: SETBP1
- Fanconi anemia-like disorder: RAD51C
- Noonan syndrome: NRAS
- generalized lymph vessel dysplasia: CCBE1
- brachydactyly-anonychia: SOX9
- genetic metabolic diseases
- Smith-Lemli-Opitz syndrome
See also
malformative combination (malformation combination)
- malformative sequence (malformation sequence)
- malformative association (malformation association)
