Holt-oram Syndrome

Description

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.

Clinical Features

Top most frequent phenotypes and symptoms related to Holt-oram Syndrome

  • Scoliosis
  • Ventricular septal defect
  • Atrial septal defect
  • Kyphosis
  • Abnormality of cardiovascular system morphology
  • Pectus excavatum
  • Patent ductus arteriosus
  • Arrhythmia
  • Joint stiffness
  • Abnormal cardiac septum morphology

And another 40 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 HOLT-ORAM SYNDROME have a estimated birth prevalence of 0.7 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Holt-oram Syndrome Is also known as heart-hand syndrome type 1, atriodigital dysplasia type 1, hos.

Researches and researchers

Doctors, researchs, and experts related to Holt-oram Syndrome extracted from public data.

Holt-oram Syndrome Experts map



Current Researchs and researchers

  • VILLENEUVE D'ASCQ — Pr Pascal ANTOINE

    Investigator of research project

    • Institution/s:
      — Sciences Cognitives & Sciences Affectives, Universit√© Lille 3
    • Research area/topic::

      Impact of three rare genetic diseases: comparative and exploratory psychosocial research



Mendelian

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Holt-oram Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Holt-Oram Syndrome - TBX5 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

TBX5
Specificity
100 %
Genes
100 %
Holt-Oram Syndrome - TBX5 Del/dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

TBX5
Specificity
100 %
Genes
100 %
TBX5 Sequencing.

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

TBX5
Specificity
100 %
Genes
100 %
Congenital Heart Disease Panel.

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

TBX1, TBX5, NKX2-5
Specificity
34 %
Genes
100 %
Prenatal TBX5 Gene Sequencing.

By GeneDx (United States).

TBX5
Specificity
100 %
Genes
100 %
TBX5 Gene Sequencing.

By GeneDx (United States).

TBX5
Specificity
100 %
Genes
100 %
CardioNext with TTN.

By Ambry Genetics (United States).

RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
CustomNext: Cardio.

By Ambry Genetics (United States).

RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SKI, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %

We have 72 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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