Eiken Syndrome

Description

Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.

Clinical Features

Top most frequent phenotypes and symptoms related to Eiken Syndrome

  • Intellectual disability
  • Short stature
  • Severe short stature
  • Skeletal dysplasia
  • Arthralgia
  • Short palm
  • Short foot
  • Short phalanx of finger
  • Short toe
  • Epiphyseal dysplasia

And another 16 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Eiken Syndrome Is also known as bone modeling defect of hands and feet, eiken skeletal 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.

Eiken Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

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

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Hyperparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET
Specificity
13 %
Genes
100 %
Hyperparathyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET
Specificity
13 %
Genes
100 %
PTH1R mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

PTH1R
Specificity
100 %
Genes
100 %
PTH1R. Complete sequencing.

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

PTH1R
Specificity
100 %
Genes
100 %
Eiken syndrome (sequence analysis of PTH1R gene).

By CGC Genetics (Portugal).

PTH1R
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 %
Blomstrand lethal chondrodysplasia (sequence analysis of PTH1R gene).

By CGC Genetics (Portugal).

PTH1R
Specificity
100 %
Genes
100 %

You can get up to 57 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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