Steel Syndrome

Description

Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Steel Syndrome

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Pain
  • Flexion contracture
  • Delayed speech and language development

And another 34 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

Steel Syndrome Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome, dislocated hips and radial heads, carpal coalition, scoliosis, and short stature.

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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Steel 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 %
Steel syndrome Comprehensive Test.

By Connective Tissue Gene Tests (United States).

COL27A1
Specificity
100 %
Genes
100 %
Steel syndrome NGS Test.

By Connective Tissue Gene Tests (United States).

COL27A1
Specificity
100 %
Genes
100 %
Steel syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests (United States).

COL27A1
Specificity
100 %
Genes
100 %
COL27A1.

By Fulgent Genetics Fulgent Genetics (United States).

COL27A1
Specificity
100 %
Genes
100 %

We have -3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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