Spondyloepiphyseal Dysplasia Tarda

Description

Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepiphyseal Dysplasia Tarda

  • Short stature
  • Scoliosis
  • Pain
  • Abnormality of the skeletal system
  • Short neck
  • Kyphosis
  • Malar flattening
  • Kyphoscoliosis
  • Skeletal dysplasia
  • Arthralgia

And another 28 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.

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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Spondyloepiphyseal Dysplasia Tarda Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TRAPPC2. Complete sequencing.

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

TRAPPC2
Specificity
100 %
Genes
100 %
SEDL. Complete sequencing.

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

TRAPPC2
Specificity
100 %
Genes
100 %
TRAPPC2. Complete sequencing.

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

TRAPPC2
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia tarda (sequence analysis of TRAPPC2 gene).

By CGC Genetics (Portugal).

TRAPPC2
Specificity
100 %
Genes
100 %
Spondyloepiphyseal Dysplasia Tarda SEDL.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital (India).

TRAPPC2
Specificity
100 %
Genes
100 %
X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT) via TRAPPC2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TRAPPC2
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %

We have 20 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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