Microcornea-myopic Chorioretinal Atrophy-telecanthus Syndrome

Description

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.

Clinical Features

Top most frequent phenotypes and symptoms related to Microcornea-myopic Chorioretinal Atrophy-telecanthus Syndrome

  • Depressivity
  • Posteriorly rotated ears
  • Telecanthus
  • Abnormality of the eye
  • Coloboma
  • Wide nose
  • Microcornea
  • Broad nasal tip
  • Chorioretinal atrophy
  • Posterior subcapsular cataract

And another 1 symptoms. If you need more information about this disease we can help you.

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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

Microcornea-myopic Chorioretinal Atrophy-telecanthus Syndrome Is also known as mmcat syndrome.

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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Microcornea-myopic Chorioretinal Atrophy-telecanthus Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Microcornea, myopic chorioretinal atrophy and telecanthus (sequence analysis of ADAMTS18 gene).

By CGC Genetics (Portugal).

ADAMTS18
Specificity
100 %
Genes
100 %
Microcornea, myopic chorioretinal atrophy and telecanthus (sequence analysis of ADAMTS18 gene).

By CGC Genetics (Portugal).

ADAMTS18
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC (Estonia).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2 , (...)

View the complete list with 259 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 265 more genes
Specificity
1 %
Genes
100 %
ADAMTS18.

By Fulgent Genetics Fulgent Genetics (United States).

ADAMTS18
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics (Finland).

RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...)

View the complete list with 239 more genes
Specificity
1 %
Genes
100 %
Cone Rod Dystrophy Panel.

By Blueprint Genetics (Finland).

RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, ARHGEF18, ADAMTS18, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, CLN3, PITPNM3, CNGA3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %

We have 3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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