Chondrodysplasia, Grebe Type

Description

Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

Clinical Features

Top most frequent phenotypes and symptoms related to Chondrodysplasia, Grebe Type

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Flexion contracture
  • Brachydactyly
  • Abnormality of the skeletal system
  • Talipes equinovarus
  • Edema

And another 46 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, Grebe Type Is also known as grebe chondrodysplasia, grebe dysplasia, achondrogenesis, brazilian, acromesomelic dysplasia, grebe type, amdg, achondrogenesis, type ii, formerly.

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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Chondrodysplasia, Grebe Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GDF5. Complete sequencing.

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

GDF5
Specificity
100 %
Genes
100 %
Chondrodysplasia, Grebe type (sequence analysis of GDF5 gene).

By CGC Genetics (Portugal).

GDF5
Specificity
100 %
Genes
100 %
Acromesomelic dysplasia, Hunter-Thompson type (sequence analysis of GDF5 gene).

By CGC Genetics (Portugal).

GDF5
Specificity
100 %
Genes
100 %
Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene).

By CGC Genetics (Portugal).

GDF5
Specificity
100 %
Genes
100 %
Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene).

By CGC Genetics (Portugal).

GDF5
Specificity
100 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
GDF5-related Disorders via GDF5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GDF5
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 31 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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