Extent
isolated
multiple
- malformative syndrome
- field defect
- association
Types
minor anomaly
major anomaly
- deformations
- malformations
- disruptions
- sequence
Types
intrinsic developmental anomalies
- malformation
- dysplasia
extrinsic developmental anomalies
- disruption (secondary malformation)
- deformity
connected developmental anomalies
- malformative sequence
- malformative field defect
Pattern
malformative syndrome
malformative association
Etiology (synopsis)
multifactorial
- isolated
- intrinsic
mendelian (monogenic)
- isolated
- multiple
- intrinsic
- extrinsic
chromosomal
- multiple
- intrinsic
Etiology
chromosomal anomalies
- structural chromosomal anomalies
- translocations
- inversions
- deletions and microdeletions
- duplications
cerebral developmental anomalies
genetic developmental anomalies (monogenic mutations)
- mutations of genes controling embryonic devlopment
- mutations of genes coding for enzymes
- inborn errors of cholesterol synthesis
- anomalies of homocysteine remethylation (spina bifida)
infectious diseases
dysimmunity
teratogenic chemical agents or teratogens (environmental teratogenesis)
radiations
ischemic disruptions
twinning disruption
thermodisruptive anomalies
chorioamniotic anomalies
- chorion-yolk sac rupture
- amnion rupture (oligoamnios sequence)
- amniotic anomalies (amniotic adhesion)
placental anomalies
- circumvallate placenta disruptions
uterine anomalies
- uterine malformations
- uterine tumors
maternal disorders
- maternal diabetes
- maternal phenylketonuria
multifactorial disorders
By systems
craniofacial developmental anomalies
nervous system developmental anomalies
cardiovascular developmental anomalies
- cardiac developmental anomalies
- vascular developmental anomalies
portal vein developmental anomalies
lymphatic developmental anomalies
genitourinary developmental anomalies
- genital developmental anomalies
- urinary developmental anomalies
- renal developmental anomalies
splenic developmental anomalies
neural crest developmental anomalies
mammalian body plan anomalies
muscular developmental anomalies
skeletal developmental anomalies
bronchial developmental anomalies
pulmonary developmental anomalies
digestive developmental anomalies
- hepatic developmental anomalies
- pancreatic developmental anomalies
Classification
malformative syndromes
malformative disruptions (secondary malformations)
malformaive sequences
malformative associations
congenital deformations
congenital dysplasias
Features
monotopic developmental field defects
polytopic developmental field defects
Chronology
1996: 40% of the malformation and dysplasia syndromes listed in Smith’s Recognizable Patterns of Human Malformation [Jones, 1988] are mapped and/or identified.