Microcephaly syndrome

Definition:

Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly syndrome. To date, a large number of microcephaly syndromes have been reported.

References:

[1]. Dianne Abuelo, et al. Microcephaly syndromes. Semin Pediatr Neurol. 2007 Sep;14(3):118-27. [Content Brief]

[2]. Elisa De Franco, et al. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. J Clin Invest. 2020 Dec 1;130(12):6338-6353. [Content Brief]

[3]. Ghada M H Abdel-Salam, et al. A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). Am J Med Genet A. 2012 Nov;158A(11):2788-96. [Content Brief]

[4]. Gilad D Evrony, et al. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. 2017 Aug;27(8):1323-1335. [Content Brief]

[5]. Mara Cavallin, et al. Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. Eur J Med Genet. 2018 Dec;61(12):755-758. [Content Brief]

[6]. Miao He, et al. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest. 2011 Mar;121(3):976-84. [Content Brief]

[7]. Molly E Kuo, et al. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. Am J Hum Genet. 2019 Mar 7;104(3):520-529. [Content Brief]

[8]. Rami Kaufmann, et al. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Am J Hum Genet. 2010 Nov 12;87(5):667-70. [Content Brief]

[9]. Ranad Shaheen, et al. Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. Genet Med. 2016 Jul;18(7):686-95. [Content Brief]

[10]. Ranad Shaheen, et al. Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. Genome Biol. 2015 Sep 28;16:210. [Content Brief]

[11]. Xiaochang Zhang, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 3;94(4):547-58. [Content Brief]

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