developmental anomalies

Extent

 isolated

• malformations / malformative anomalies

 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

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

• 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

• cerebral developmental anomalies
• spinal developmental anomalies
• ear 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.