Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation; Mclmr

Description

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation; Mclmr

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Micrognathia
  • Sensorineural hearing impairment

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation; Mclmr Is also known as lymphedema, microcephaly, chorioretinopathy syndrome, cdmmr syndrome, mlcrd syndrome, lymphedema and retinal folds with microcephaly and microphthalmos, microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant, microcephaly, ly.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation; Mclmr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Microcephaly with or without chorioretinopathy, lymphedema or mental retardation (sequence analysis of KIF11 gene).

By CGC Genetics (Portugal).

KIF11
Specificity
100 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics (Portugal).

STIL, BUB1B, TUBG1, VRK1, SLC25A19, NIN, CASK, TSEN34, ZNF335, PCNT, STAMBP, CLP1, CENPJ, NDE1, EXOSC3, TUBGCP6, IER3IP1, CDK5RAP2, ASPM, MBD5 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Microcephaly, Lymphedema, and Chorioretinal Dysplasia (MLCRD) / Chorioretinal Dysplasia, Microcephaly, and Mental Retardation (CDMMR) / Familial Exudative Vitreoretinopathy (FEVR) via KIF11 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

KIF11
Specificity
100 %
Genes
100 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ATOH7, CAPN5, RCBTB1, ATP6V0A2, ZNF408, TSPAN12, VCAN, CTNNB1, ISPD, FZD4, KIF11, LRP5, NDP
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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