Coxopodopatellar Syndrome

Description

Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.

Clinical Features

Phenotypes and symptoms related to Coxopodopatellar Syndrome

  • Hip dysplasia
  • Abnormality of epiphysis morphology
  • Abnormality of pelvic girdle bone morphology
  • Abnormality of the knee
  • Aplasia/Hypoplasia of the patella

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

Coxopodopatellar Syndrome Is also known as scott-taor syndrome, sps, small patella syndrome, ischiopatellar dysplasia.

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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Coxopodopatellar Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Small Patella Syndrome via TBX4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TBX4
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 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center (Germany).

BMPR1B, BMPR2, TBX4, CAV1, CAV3, NME8, ACVRL1, SARS2, CCNO, DNAI2, CFTR, EIF2AK4, DNAAF2, RSPH9, DNAAF4, RSPH4A, COL4A1, COL4A2, DNAH11, DNAH5 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
TBX4.

By Fulgent Genetics Fulgent Genetics (United States).

TBX4
Specificity
100 %
Genes
100 %
Pulmonary Artery Hypertension (PAH) Panel.

By Blueprint Genetics (Finland).

BMPR2, TBX4, CAV1, NFU1, ACVRL1, EIF2AK4, ENG, FOXF1, KCNA5, KCNK3, SMAD4, RASA1
Specificity
9 %
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 %
PULMONARY HYPERTENSION, NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

BMPR1B, BMPR2, TBX4, CAV1, ACVRL1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD9
Specificity
9 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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