Spondyloepimetaphyseal Dysplasia, GeneviÈve Type

Description

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

Clinical Features

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

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus
  • Abnormal facial shape

And another 44 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.

Alternative names

Spondyloepimetaphyseal Dysplasia, GeneviÈve Type Is also known as nans deficiency, semd, genevieve type, semdg, semd, geneviÈve type.

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, GeneviÈve Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
NANS.

By Fulgent Genetics Fulgent Genetics (United States).

NANS
Specificity
100 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics (Finland).

RMRP, ROR2, BGN, RUNX2, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, TBX15, TBX3, TBX4, TBX6 , (...)

View the complete list with 223 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics (Finland).

RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A , (...)

View the complete list with 284 more genes
Specificity
1 %
Genes
100 %

We have -2 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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