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Timothy syndrome

Orpha number ORPHA65283
Synonym(s) LQT8
Long QT syndrome - syndactyly
Long QT syndrome type 8
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset -
ICD-10
  • I45.8
ICD-O -
OMIM
UMLS
  • C1832916
MeSH
  • C536962
MedDRA -
SNOMED CT -

Summary

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. Less than 20 cases have been reported worldwide. Timothy syndrome is caused by mutations in the CACNA1C gene and is inherited as autosomal dominant trait.

Expert reviewer(s)

  • Pr Robert ANDERSON

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Detailed information

Emergency guidelines
  • IT (2008,pdf)
  • PT (2008,pdf)
  • ES (2008,pdf)
  • FR (2008,pdf)
Anesthesia guidelines
  • EN (2014,pdf)
Review article
  • EN (2008)
Guidance for genetic testing
  • EN (2013,pdf)
Clinical genetics review
  • EN (2011)
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.