Timothy Syndrome

Description

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

Clinical Features

Top most frequent phenotypes and symptoms related to Timothy Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Muscular hypotonia
  • Low-set ears
  • Cognitive impairment
  • Depressed nasal bridge

And another 74 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

Timothy Syndrome Is also known as lqt8, long qt syndrome 8, long qt syndrome with syndactyly, long qt syndrome-syndactyly syndrome, long qt syndrome type 8.

Researches and researchers

Doctors, researchs, and experts related to Timothy Syndrome extracted from public data.

Timothy Syndrome Experts map



Current Researchs and researchers

  • NANTES — Dr Jean-Baptiste GOURRAUD

    Investigator of research project

    • Institution/s:
      — Institut de Recherche en Santé - Université de Nantes
    • Research area/topic::

      CIQTP prolongation : role and mechanism in sudden cardiac death


  • TORINO — Pr Emilio CARBONE

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Torino
    • Research area/topic::

      Bridging Timothy syndrome Cav1.2 calcium channel mutations (TS1 and TS2) to autism spectrum disorders



Mendelian

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Timothy Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
Brugada Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1B, SCN2B, SCN5A, CACNA1C, CACNB2, SLMAP, HCN4, TRPM4, SCN3B, GPD1L, ABCC9, KCND3, KCNE3, KCNH2, KCNJ8, PKP2
Specificity
7 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Long QT Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CALM1, CALM2, CASQ2, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1
Specificity
6 %
Genes
100 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Brugada Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1B, SCN5A, CACNA1C, CACNB2, HCN4, TRPM4, SCN3B, GPD1L, KCNE3
Specificity
12 %
Genes
100 %
Comprehensive Arrhythmias Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, HCN4, TRPM4, SCN3B, GPD1L, AKAP9, ANK2, KCNE1, KCNE2, KCNE3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Long QT Syndrome and Short QT Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN4B, SCN5A, SNTA1, CACNA1C, CALM1, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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