Spondyloepimetaphyseal Dysplasia With Multiple Dislocations

Description

Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia With Multiple Dislocations

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape
  • Muscular hypotonia
  • Cleft palate
  • Low-set ears

And another 78 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 With Multiple Dislocations Is also known as semd-md, semdjl2, spondyloepimetaphyseal dysplasia with joint laxity type 2, spondyloepimetaphyseal dysplasia with joint laxicity, hall type, spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, spondyloepimetaphyseal dysplasia with multiple.

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 With Multiple Dislocations 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 %
Desbuquois dysplasia and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 %
Desbuquois dysplasia and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 %
Desbuquois dysplasia and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
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 %
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel.

By Connective Tissue Gene Tests (United States).

B3GALT6, KIF22
Specificity
50 %
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 %

We have 11 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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