Thrombocytopenia-absent Radius Syndrome

Description

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

Clinical Features

Top most frequent phenotypes and symptoms related to Thrombocytopenia-absent Radius Syndrome

  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Thrombocytopenia
  • Clinodactyly of the 5th finger
  • High forehead
  • Low-set, posteriorly rotated ears
  • Abnormality of the kidney
  • Abnormal cardiac septum morphology

And another 24 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 Thrombocytopenia-absent Radius Syndrome have a estimated birth prevalence of 0.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Thrombocytopenia-absent Radius Syndrome Is also known as tar syndrome.

Researches and researchers

Doctors, researchs, and experts related to Thrombocytopenia-absent Radius Syndrome extracted from public data.

Thrombocytopenia-absent Radius Syndrome Experts map



Current Researchs and researchers

  • BRISTOL — Dr Ruth A NEWBURY-ECOB

    Clinical expert - Investigator of research project

    • Institution/s:
      — University Hospitals Bristol, St Michael's Hospital
      — University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children
      — St Michael's Hospital
    • Research area/topic::

      Clinical and molecular genetics study of Thrombocytopenia-Absent radius syndrome



Mendelian

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Thrombocytopenia-absent Radius Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
RBM8A Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RBM8A
Specificity
100 %
Genes
100 %
RBM8A Deletion/Duplication Analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RBM8A
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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