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microcephaly

DA:7

Monday 10 January 2005

Etiology

- primary microcephaly

  • autosomal recessive primary microcephaly (MCPH)
  • autosomal domiant primary microcephaly
  • X-linked primary microcephaly
  • syndromal primary microcephaly
    • Fanconi anemia
    • Cockayne syndrome
    • human immunodeficiency with microcephaly (HP.11154)
    • de Lange syndrome
    • Meckel syndrome
    • fetal akinesia syndrome with lissncephaly type III
    • DYRK1A germline mutations (18405873)
    • chromosomal anomalies
    • trisomy 18
    • trisomy 13
    • triploidy
    • trisomy 21
    • inversion 9
    • monosomy 4p
      • Wolf-Hirschorn syndrome (4p- deletion)

- secondary microcephaly (environmental microcephaly)

  • prenatal infections
  • drugs
  • chemical agents
  • intrauterine growth retardation (IUGR)

Associations

- osteogenesis imperfecta
- oligohydramnios sequence
- maternal diabetes sequence
- pentalogy of Cantrell
- Beckwith-Wiedemann syndrome (BWS)
- alpha-thalassemia
- fetal hydantoin syndrome

- microcephaly and acidosis

  • amish type microcephaly

References

- Bond J, Woods CG. Cytoskeletal genes regulating brain size. Curr Opin Cell Biol. 2006 Feb;18(1):95-101. PMID: 16337370

- Ponting C, Jackson AP. Evolution of primary microcephaly genes and the enlargement of primate brains. Curr Opin Genet Dev. 2005 Jun;15(3):241-8. PMID: 15917198