Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

Definition:

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) is a rare autosomal dominant or sporadic condition characterised by variable expression of microcephaly, eye problems including chorioretinopathy, congenital lymphoedema of the lower limbs, and mild-to-moderate intellectual disability. Historically, MCLMR was divided into two distinct entities: microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome, and chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum.

References:

[1]. Gabriela E Jones, et al. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur J Hum Genet. 2014 Jul;22(7):881-7. [Content Brief]

[2]. Ghayda M Mirzaa, et al. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. Am J Med Genet A. 2014 Nov;164A(11):2879-86. [Content Brief]

[3]. J P Fryns, et al. On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association. Clin Genet. 1995 Sep;48(3):131-3. [Content Brief]

[4]. M Feingold, et al. Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?. Am J Med Genet. 1992 Aug 1;43(6):1030-1. [Content Brief]

[5]. Matthieu J Schlögel, et al. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. Orphanet J Rare Dis. 2015 May 2;10:52. [Content Brief]

[6]. Pia Ostergaard, et al. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet. 2012 Feb 10;90(2):356-62. [Content Brief]

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