Chondrodysplasia With Joint Dislocations, Gpapp Type

Description

Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Chondrodysplasia With Joint Dislocations, Gpapp Type

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Brachydactyly
  • Wide nasal bridge
  • Short nose
  • Narrow mouth

And another 11 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

Chondrodysplasia With Joint Dislocations, Gpapp Type Is also known as gpapp deficiency.

Researches and researchers

Doctors, researchs, and experts related to Chondrodysplasia With Joint Dislocations, Gpapp Type extracted from public data.

Chondrodysplasia With Joint Dislocations, Gpapp Type Experts map



Current Researchs and researchers

  • 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::

      Chondrodysplasia with joint dislocations gPAPP type: insight on the molecular basis of the disorder and the role of IMPAD1 in post-natal skeletal development



Mendelian

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Chondrodysplasia With Joint Dislocations, Gpapp Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IMPAD1 - Chondrodysplasia with joint dislocations, gpapp type.

By Centre of Molecular Diseases (CMM) CHUV (Switzerland).

IMPAD1
Specificity
100 %
Genes
100 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics (Portugal).

BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Chondrodysplasia with joint dislocations, gPAPP type (sequence analysis of IMPAD1 gene).

By CGC Genetics (Portugal).

IMPAD1
Specificity
100 %
Genes
100 %
Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via IMPAD1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

IMPAD1
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 %
Desbuquois dysplasia and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 %
Desbuquois dysplasia and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 %
Desbuquois dysplasia and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 %

We have 13 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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