1. Mendelian
  2. Rare Diseases
  3. SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE

Spondylometaphyseal Dysplasia, Schmidt Type

Table of contents:

Description

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.

Genes related to Spondylometaphyseal Dysplasia, Schmidt Type

  • COL2A1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylometaphyseal Dysplasia, Schmidt Type

  • Short stature
  • Myopia
  • Severe short stature
  • Kyphoscoliosis
  • Platyspondyly
  • Genu valgum
  • Micromelia
  • Lumbar hyperlordosis
  • Joint dislocation
  • Coxa vara

And another 13 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

Spondylometaphyseal Dysplasia, Schmidt Type Is also known as spondylometaphyseal dysplasia, schmidt type, spondylometaphyseal dysplasia with severe genu valgum, spondylometaphyseal dysplasia, algerian type.

Researches and researchers

Doctors, researchs, and experts related to Spondylometaphyseal Dysplasia, Schmidt Type extracted from public data.

Spondylometaphyseal Dysplasia, Schmidt Type Experts map



Current Researchs and researchers

  • WIEN — Pr Regina GRILLARI

    Investigator of research project

    • Institution/s:
      — Evercyte GmbH
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - AT


  • LYON — Dr David KOUBI

    Investigator of research project

    • Institution/s:
      — FINOVATIS
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - FR


  • BERLIN — Dr Uwe KORNAK

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Charité - Universitätsmedizin Berlin (CVK)
      — Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin (CVK)
    • Research area/topic::

      SYBIL-Systems biology for the functional validation of genetic determinants of skeletal diseases -DE-


  • HAMBURG — Pr Thorsten SCHINKE

    Investigator of research project

    • Institution/s:
      — IOBM - Universitätsklinikum Hamburg-Eppendorf
    • Research area/topic::

      SYBIL-Systems biology for the functional validation of genetic determinants of skeletal diseases -DE-


  • PAVIA — Pr Antonio ROSSI

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Dipartimento di Medicina Molecolare, Università degli Studi di Pavia - Biochimica '' A. Castellani''
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - IT


  • MANCHESTER — Pr Michael BRIGGS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Faculty of of Life Sciences - University of Manchester
      — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK


  • NEWCASTLE UPON TYNE — Pr Michael BRIGGS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Faculty of of Life Sciences - University of Manchester
      — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK


Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VERTICAL TALUS, CONGENITAL; CVT