Opsismodysplasia

Description

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Clinical Features

Top most frequent phenotypes and symptoms related to Opsismodysplasia

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares

And another 55 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.

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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Opsismodysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Opsismodysplasia (sequence analysis of INPPL1 gene).

By CGC Genetics (Portugal).

INPPL1
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 %
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 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasia core Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, SOX9, TRIP11, COL1A2, FGFR3, ALPL, INPPL1, NKX3-2
Specificity
13 %
Genes
100 %
Skeletal dysplasia core NGS panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, SOX9, TRIP11, COL1A2, FGFR3, ALPL, INPPL1, NKX3-2
Specificity
13 %
Genes
100 %

We have 17 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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA GALACTOSE EPIMERASE DEFICIENCY IMMUNODEFICIENCY 51; IMD51 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA HSD10 MITOCHONDRIAL DISEASE; HSD10MD

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