Char Syndrome

Description

Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Char Syndrome

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Ptosis
  • Low-set ears
  • Depressed nasal bridge
  • Wide nasal bridge
  • Myopia

And another 46 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

Char Syndrome Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.

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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Char Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TFAP2B. Complete sequencing.

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

TFAP2B
Specificity
100 %
Genes
100 %
Char syndrome (sequence analysis of TFAP2B gene).

By CGC Genetics (Portugal).

TFAP2B
Specificity
100 %
Genes
100 %
Char Syndrome via TFAP2B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TFAP2B
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Congenital Heart Defects Panel.

By CeGaT GmbH (Germany).

SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...)

View the complete list with 351 more genes
Specificity
1 %
Genes
100 %
Congenital heart diseases Panel.

By Health in Code (Spain).

BRAF, SOS1, TBX1, TBX20, TBX5, TFAP2B, TNNI3, MED12, ZIC3, ACTA2, ACTC1, CRELD1, CBL, SHOC2, GATA5, ANKRD1, SALL4, ZFPM2, TAB2, ACVR1 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
TFAP2B.

By Fulgent Genetics Fulgent Genetics (United States).

TFAP2B
Specificity
100 %
Genes
100 %

We have 4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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