Spondyloepiphyseal Dysplasia, Kimberley Type

Description

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepiphyseal Dysplasia, Kimberley Type

  • Short stature
  • Delayed skeletal maturation
  • Platyspondyly
  • Genu valgum
  • Micromelia
  • Osteoarthritis
  • Abnormality of epiphysis morphology
  • Genu varum
  • Spondyloepiphyseal dysplasia
  • Short thorax

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available there are 1 families with SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE in Europe.
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, Kimberley Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive 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 %
Spondylo-Epi-Metaphyseal dysplasias NGS 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 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ROR2, RUNX2, BMPR1B, SHOX, SLC26A2, SMARCAL1, SOX9, TBCE, TBX6, TRIP11, TRPS1, ACP5, WNT5A, IFT122, ANKH, HES7, PCNT, CDKN1C, B3GALT6, TRPV4 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
ACAN.

By Fulgent Genetics Fulgent Genetics (United States).

ACAN
Specificity
100 %
Genes
100 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.

By Blueprint Genetics (Finland).

RMRP, BGN, SMARCAL1, ACP5, CCN6, RAB33B, B3GALT6, TRPV4, CHST3, CANT1, SLC39A13, DYM, COL11A1, COL11A2, TRAPPC2, DDR2, ACAN, EIF2AK3, HSPG2, INPPL1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics (Finland).

RMRP, ROR2, RUNX2, BMP1, BMPR1B, SHOX, SLC26A2, SMARCAL1, SOX9, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TRIP11, ACP5, VDR, CCN6, WNT5A, ADAMTS10, CA2 , (...)

View the complete list with 89 more genes
Specificity
1 %
Genes
100 %

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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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