Ehlers-danlos Syndrome, Spondylodysplastic Type, 2; Edsspd2

Description

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Spondylodysplastic Type, 2; Edsspd2

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus
  • Pectus excavatum
  • Prominent forehead
  • Proptosis
  • Kyphoscoliosis
  • Osteopenia

And another 14 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

Ehlers-danlos Syndrome, Spondylodysplastic Type, 2; Edsspd2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly, edsp2, formerly.

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, Spondylodysplastic Type, 2; Edsspd2 Recommended genes panels

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

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Familial Aneurysm and Aortopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
B3GALT6.

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

B3GALT6
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 syndrome, progeroid type (sequence analysis of B3GALT6 gene).

By CGC Genetics (Portugal).

B3GALT6
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome, progeroid type (sequence analysis of B3GALT6 gene).

By CGC Genetics (Portugal).

B3GALT6
Specificity
100 %
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 %

We have 54 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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