Brachydactyly, Type A1, C; Bda1c

Clinical Features

Top most frequent phenotypes and symptoms related to Brachydactyly, Type A1, C; Bda1c

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Short distal phalanx of finger
  • Bilateral talipes equinovarus
  • Fibular hypoplasia
  • Short 1st metacarpal
  • Short middle phalanx of the 5th finger
  • Short middle phalanx of the 2nd finger
  • Short middle phalanx of the 4th finger

And another 1 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.

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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Brachydactyly, Type A1, C; Bda1c 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
50 %
Chondrodysplasia, Grebe type (sequence analysis of GDF5 gene).

By CGC Genetics (Portugal).

GDF5
Specificity
100 %
Genes
50 %
Acromesomelic dysplasia, Hunter-Thompson type (sequence analysis of GDF5 gene).

By CGC Genetics (Portugal).

GDF5
Specificity
100 %
Genes
50 %
Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene).

By CGC Genetics (Portugal).

GDF5
Specificity
100 %
Genes
50 %
Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene).

By CGC Genetics (Portugal).

GDF5
Specificity
100 %
Genes
50 %
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
50 %
GDF5-related Disorders via GDF5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GDF5
Specificity
100 %
Genes
50 %
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
50 %

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 Rare Disease Search Engine

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