Schwartz-jampel Syndrome, Type 1; Sjs1

Clinical Features

Top most frequent phenotypes and symptoms related to Schwartz-jampel Syndrome, Type 1; Sjs1

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape
  • Pain
  • Cataract

And another 77 symptoms. If you need more information about this disease we can help you.

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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

Schwartz-jampel Syndrome, Type 1; Sjs1 Is also known as sja syndrome, schwartz-jampel-aberfeld syndrome, sjs, myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities, schwartz-jampel syndrome, chondrodystrophic myotonia.

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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Schwartz-jampel Syndrome, Type 1; Sjs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myotonic Syndrome Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1
Specificity
15 %
Genes
100 %
NGS Skeletal Dysplasia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
100 %
HSPG2 - Dyssegmental dysplasia / Schwartz Jampel syndrome.

By Centre of Molecular Diseases (CMM) CHUV (Switzerland).

HSPG2
Specificity
100 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
HSPG2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HSPG2
Specificity
100 %
Genes
100 %
Schwartz-Jampel Syndrome type 1 (sequence analysis of HSPG2 gene).

By CGC Genetics (Portugal).

HSPG2
Specificity
100 %
Genes
100 %
Schwartz-Jampel syndrome types 1 and 2 (NGS panel of 2 genes).

By CGC Genetics (Portugal).

HSPG2, LIFR
Specificity
50 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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