Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome; Caasds

Clinical Features

Phenotypes and symptoms related to Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome; Caasds

  • Hypertelorism
  • Hydrocephalus
  • Encephalocele
  • Abnormality of the outer ear
  • Abnormal electroretinogram
  • Anterior segment developmental abnormality
  • Posterior fossa cyst
  • Anterior encephalocele
  • Abnormal corneal endothelium morphology

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.

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.

Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome; Caasds Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
VSX1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

VSX1
Specificity
100 %
Genes
100 %
Keratoconus type 1 (sequence analysis of VSX1 gene).

By CGC Genetics (Portugal).

VSX1
Specificity
100 %
Genes
100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics (Portugal).

BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1
Specificity
6 %
Genes
100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics (Portugal).

BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1
Specificity
6 %
Genes
100 %
Corneal Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Keratoconus and Posterior Polymorphous Corneal Dystrophy via VSX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

VSX1
Specificity
100 %
Genes
100 %
Keratoconus and related disorders Comprehensive test.

By Connective Tissue Gene Tests (United States).

VSX1, ZNF469, MIR184, PRDM5
Specificity
25 %
Genes
100 %

You can get up to 16 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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