Multiple Epiphyseal Dysplasia Type 1

Description

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Epiphyseal Dysplasia Type 1

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia
  • Joint stiffness
  • Genu valgum
  • Micromelia
  • Short palm
  • Limitation of joint mobility

And another 27 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

Multiple Epiphyseal Dysplasia Type 1 Is also known as med1, edm1, multiple epiphyseal dysplasia, comp-related, polyepiphyseal dysplasia type 1.

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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Multiple Epiphyseal Dysplasia Type 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
COMP. Complete sequencing.

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

COMP
Specificity
100 %
Genes
100 %
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS.

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

TRIP11, EVC2, COL11A1, COL11A2, COMP, EVC, FGFR2
Specificity
15 %
Genes
100 %
COMP. Sequencing of the exons 8-19.

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

COMP
Specificity
100 %
Genes
100 %
COMP. Complete sequencing.

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

COMP
Specificity
100 %
Genes
100 %
Pseudoachondroplasia (sequence analysis of COMP gene).

By CGC Genetics (Portugal).

COMP
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PIERPONT SYNDROME; PRPTS HYDROLETHALUS SYNDROME 2; HLS2 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

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