Types

 deformations
 malformations
 disruptions

Etiology

 chromosomal anomalies

• numerical chromosomal anomalies
  • polyploidy (triploidy)
  • aneuploidy (monosomies, trisomies)

• structural chromosomal anomalies
  • translocations
  • inversions
  • deletions and microdeletions
  • duplications

 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

 cerebral developmental anomalies
 portal vein developmental anomalies
 lymphatic developmental anomalies
 urinary developmental anomalies
 renal developmental anomalies
 splenic 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.