Short Stature-advanced Bone Age-early-onset Osteoarthritis Syndrome

Clinical Features

Phenotypes and symptoms related to Short Stature-advanced Bone Age-early-onset Osteoarthritis Syndrome

  • Brachydactyly
  • Midface retrusion
  • Osteoarthritis
  • Short thumb
  • Developmental stagnation

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.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Short Stature-advanced Bone Age-early-onset Osteoarthritis Syndrome 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 %
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 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ROR2, RUNX2, BMPR1B, SHOX, SLC26A2, SMARCAL1, SOX9, TBCE, TBX6, TRIP11, TRPS1, ACP5, WNT5A, IFT122, ANKH, HES7, PCNT, CDKN1C, B3GALT6, TRPV4 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
ACAN.

By Fulgent Genetics Fulgent Genetics (United States).

ACAN
Specificity
100 %
Genes
100 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.

By Blueprint Genetics (Finland).

RMRP, BGN, SMARCAL1, ACP5, CCN6, RAB33B, B3GALT6, TRPV4, CHST3, CANT1, SLC39A13, DYM, COL11A1, COL11A2, TRAPPC2, DDR2, ACAN, EIF2AK3, HSPG2, INPPL1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics (Finland).

RMRP, ROR2, RUNX2, BMP1, BMPR1B, SHOX, SLC26A2, SMARCAL1, SOX9, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TRIP11, ACP5, VDR, CCN6, WNT5A, ADAMTS10, CA2 , (...)

View the complete list with 89 more genes
Specificity
1 %
Genes
100 %

We have 3 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TREHALASE DEFICIENCY SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 RENAL HYPODYSPLASIA/APLASIA 1; RHDA1 FRAGILE X SYNDROME; FXS ALOPECIA AREATA 1; AA1 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more