Metaphyseal Chondrodysplasia, Jansen Type

Description

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

Clinical Features

Top most frequent phenotypes and symptoms related to Metaphyseal Chondrodysplasia, Jansen Type

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Brachydactyly
  • Abnormality of the skeletal system
  • Blindness

And another 40 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

Metaphyseal Chondrodysplasia, Jansen Type Is also known as metaphyseal chondrodysplasia, murk jansen type.

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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Metaphyseal Chondrodysplasia, Jansen Type 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 %

We have 57 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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