Spondyloenchondrodysplasia

Description

Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloenchondrodysplasia

  • Intellectual disability
  • Short stature
  • Abnormality of the dentition
  • Kyphosis
  • Kyphoscoliosis
  • Hyperlordosis
  • Platyspondyly
  • Micromelia
  • Delayed eruption of teeth
  • Cerebral calcification

And another 12 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

Spondyloenchondrodysplasia Is also known as spencd, spondylometaphyseal dysplasia with enchondromatous changes, spondyloenchondromatosis.

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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Spondyloenchondrodysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ACP5.

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

ACP5
Specificity
100 %
Genes
100 %
ACP5. Complete sequencing.

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

ACP5
Specificity
100 %
Genes
100 %
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI, sequence analysis of ACP5 gene).

By CGC Genetics (Portugal).

ACP5
Specificity
100 %
Genes
100 %
Spondyloenchondrodysplasia with Immune Dysregulation via ACP5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ACP5
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 %
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 19 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET Genetic Syndrome Finder

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