microcephaly

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