Pseudoachondroplasia

Description

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Pseudoachondroplasia

  • Scoliosis
  • Gait disturbance
  • Kyphosis
  • Delayed skeletal maturation
  • Arthralgia
  • Hyperlordosis
  • Platyspondyly
  • Genu valgum
  • Joint hyperflexibility
  • Micromelia

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available PSEUDOACHONDROPLASIA have a estimated prevalence of 3.3 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Pseudoachondroplasia Is also known as pseudoachondroplastic dysplasia, pseudoachondroplastic spondyloepiphyseal dysplasia.

Researches and researchers

Doctors, researchs, and experts related to Pseudoachondroplasia extracted from public data.

Pseudoachondroplasia 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


  • 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


  • 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



Mendelian

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Pseudoachondroplasia 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 %

We have 58 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PARKES WEBER SYNDROME LEGG-CALVE-PERTHES DISEASE; LCPD HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49

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