Blepharocheilodontic Syndrome 2; Bcds2

Clinical Features

Top most frequent phenotypes and symptoms related to Blepharocheilodontic Syndrome 2; Bcds2

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip
  • Facial asymmetry
  • Anal atresia
  • Flat face
  • Reduced number of teeth
  • Ectropion

And another 4 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.

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.

Blepharocheilodontic Syndrome 2; Bcds2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Blepharocheilodontic syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

CDH1, CTNND1
Specificity
50 %
Genes
100 %
Blepharocheilodontic syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

CDH1, CTNND1
Specificity
50 %
Genes
100 %
Blepharocheilodontic syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

CDH1, CTNND1
Specificity
50 %
Genes
100 %
CTNND1.

By Fulgent Genetics Fulgent Genetics (United States).

CTNND1
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

You can get up to -3 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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