Home > D. Systemic pathology > Genetic and developmental anomalies > developmental anomalies

developmental anomalies

Saturday 19 July 2003

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

  • 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.