Polyvalvular Heart Disease Syndrome

Description

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

Clinical Features

Top most frequent phenotypes and symptoms related to Polyvalvular Heart Disease Syndrome

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears
  • High palate
  • Arrhythmia
  • Delayed skeletal maturation
  • Abnormality of the pinna
  • Short philtrum

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Polyvalvular Heart Disease Syndrome Is also known as phd 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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Polyvalvular Heart Disease Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Congenital heart defects, nonsyndromic 2 (sequence analysis of TAB2 gene).

By CGC Genetics (Portugal).

TAB2
Specificity
100 %
Genes
100 %
Congenital heart disease Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TBX1, TBX20, TBX5, TAB2, CHD7, NKX2-5, NKX2-6, ELN, GATA4, GATA6, GDF1, JAG1, NOTCH1, NOTCH2, NR2F2
Specificity
7 %
Genes
100 %
Congenital heart disease Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TBX1, TBX20, TBX5, TAB2, CHD7, NKX2-5, NKX2-6, ELN, GATA4, GATA6, GDF1, JAG1, NOTCH1, NOTCH2, NR2F2
Specificity
7 %
Genes
100 %
Congenital heart disease NGS panel.

By Connective Tissue Gene Tests (United States).

TBX1, TBX20, TBX5, TAB2, CHD7, NKX2-5, NKX2-6, ELN, GATA4, GATA6, GDF1, JAG1, NOTCH1, NOTCH2, NR2F2
Specificity
7 %
Genes
100 %
Frontometaphyseal dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TAB2, FLNA, MAP3K7
Specificity
34 %
Genes
100 %
Frontometaphyseal dysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

TAB2, FLNA, MAP3K7
Specificity
34 %
Genes
100 %
Frontometaphyseal dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TAB2, FLNA, MAP3K7
Specificity
34 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LONG QT SYNDROME 2; LQT2 NEPHROTIC SYNDROME, TYPE 3; NPHS3

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