Ehlers-danlos Syndrome, Musculocontractural Type, 2; Edsmc2

Description

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Musculocontractural Type, 2; Edsmc2

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain
  • High palate
  • Motor delay
  • Downslanted palpebral fissures
  • Frontal bossing
  • Talipes equinovarus

And another 32 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.


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Ehlers-danlos Syndrome, Musculocontractural Type, 2; Edsmc2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DSE.

By Institute for Human Genetics University Clinic Freiburg (Germany).

DSE
Specificity
100 %
Genes
100 %
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 %
Ehlers-Danlos Syndrome Panel.

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

TNXB, C1R, C1S, B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, CHST14, FLNA, ATP7A, PLOD1, B4GALT7
Specificity
6 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive.

By Connective Tissue Gene Tests (United States).

B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL12A1, ZNF469, CHST14, ATP7A, PLOD1, B4GALT7, PRDM5
Specificity
9 %
Genes
100 %
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests (United States).

C1R, C1S, B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, FLNA, ATP7A, PLOD1, B4GALT7, PRDM5
Specificity
6 %
Genes
100 %
Ehlers-Danlos syndrome Comprehensive panel - Recessive.

By Connective Tissue Gene Tests (United States).

B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL12A1, ZNF469, CHST14, ATP7A, PLOD1, B4GALT7, PRDM5
Specificity
9 %
Genes
100 %
Ehlers-Danlos syndrome NGS panel - Recessive.

By Connective Tissue Gene Tests (United States).

B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL12A1, ZNF469, CHST14, ATP7A, PLOD1, B4GALT7, PRDM5
Specificity
9 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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