Spondyloepimetaphyseal Dysplasia, Missouri Type

Description

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia, Missouri Type

  • Short stature
  • Delayed skeletal maturation
  • Skeletal dysplasia
  • Platyspondyly
  • Micromelia
  • Limitation of joint mobility
  • Waddling gait
  • Osteoarthritis
  • Abnormality of the metaphysis
  • Abnormality of epiphysis morphology

And another 22 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

Spondyloepimetaphyseal Dysplasia, Missouri Type Is also known as semd, missouri type, spondyloepimetaphyseal dysplasia type 2, semd type 2.

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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Spondyloepimetaphyseal Dysplasia, Missouri Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spondyloepimetaphyseal dysplasia, Missouri type (sequence analysis of MMP13 gene).

By CGC Genetics (Portugal).

MMP13
Specificity
100 %
Genes
100 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics (Portugal).

RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Chronic Joint Pain and Dysfunction via MMP13 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MMP13
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 %
Metaphyseal anadysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

MMP13, MMP9
Specificity
50 %
Genes
100 %
Metaphyseal anadysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

MMP13, MMP9
Specificity
50 %
Genes
100 %
Metaphyseal anadysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

MMP13, MMP9
Specificity
50 %
Genes
100 %
Skeletal dysplasia extended NGS panel.

By Connective Tissue Gene Tests (United States).

RMRP, NSDHL, TRPV4, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP13, MMP9, ARSE, PEX7, PTH1R
Specificity
6 %
Genes
100 %

We have 28 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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