Etiology
- 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
