Brachydactyly, Type D; Bdd

Description

This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. [HPO:probinson]

Clinical Features

Phenotypes and symptoms related to Brachydactyly, Type D; Bdd

  • Brachydactyly
  • Short distal phalanx of finger
  • Short phalanx of finger
  • Broad distal phalanx of finger
  • Broad distal phalanx of the thumb
  • Type D brachydactyly
  • Broad distal phalanx of the hallux

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

Brachydactyly, Type D; Bdd Is also known as stub thumb.

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 D; Bdd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HOXD13 - Related Brachydactyly.

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

HOXD13
Specificity
100 %
Genes
100 %
HOXD13 Gene Sequencing.

By GeneDx (United States).

HOXD13
Specificity
100 %
Genes
100 %
HOXD13. Complete sequencing.

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

HOXD13
Specificity
100 %
Genes
100 %
VATERL association (sequence analysis of HOXD13 gene).

By CGC Genetics (Portugal).

HOXD13
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 %
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 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 more genes
Specificity
1 %
Genes
100 %

We have 21 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH 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 RENAL CYSTS AND DIABETES SYNDROME; RCAD SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 BRACHYDACTYLY, TYPE A1; BDA1 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

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