Metaphyseal Chondrodysplasia, Schmid Type

Description

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

Clinical Features

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

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Brachydactyly
  • Frontal bossing
  • Dilatation
  • Craniosynostosis
  • Platyspondyly
  • Short distal phalanx of finger
  • Waddling gait

And another 25 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

Metaphyseal Chondrodysplasia, Schmid Type Is also known as spondylometaphyseal dysplasia, japanese type.

Researches and researchers

Doctors, researchs, and experts related to Metaphyseal Chondrodysplasia, Schmid Type extracted from public data.

Metaphyseal Chondrodysplasia, Schmid Type Experts map



Current Researchs and researchers

  • BRUSSELS — Pr Olivier DEVUYST

    Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
      — Université Catholique de Louvain - UCL
      — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
      — Universität Zürich
    • Research area/topic::

      EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models


  • BRUXELLES — Pr Olivier DEVUYST

    Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
      — Université Catholique de Louvain - UCL
      — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
      — Universität Zürich
    • Research area/topic::

      EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models


  • MULHOUSE — Dr Valeriy LUCHNIKOV

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Université de Haute-Alsace (UHA) - Campus Illberg
    • Research area/topic::

      BioCaps: Programmed drug release by rolled-up biopolymer capsules - FR


  • LAUSANNE — Pr Olivier DEVUYST

    Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
      — Université Catholique de Louvain - UCL
      — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
      — Universität Zürich
    • Research area/topic::

      EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models


  • ZÜRICH — Pr Olivier DEVUYST

    Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
      — Université Catholique de Louvain - UCL
      — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
      — Universität Zürich
    • Research area/topic::

      EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models



Mendelian

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Metaphyseal Chondrodysplasia, Schmid Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COL10A1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COL10A1
Specificity
100 %
Genes
100 %
COL10A1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

COL10A1
Specificity
100 %
Genes
100 %
COL10A1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

COL10A1
Specificity
100 %
Genes
100 %
COL10A1. Complete sequencing.

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

COL10A1
Specificity
100 %
Genes
100 %
Metaphyseal chondrodysplasia, Schmid type (MCDS, sequence analysis of COL10A1 gene).

By CGC Genetics (Portugal).

COL10A1
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 %
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via COL10A1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

COL10A1
Specificity
100 %
Genes
100 %
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 %

We have 37 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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