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Timothy syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • LQT8
    • Long QT syndrome type 8
    • Long QT syndrome-syndactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: I45.8
  • OMIM: 601005  618447
  • UMLS: C1832916
  • MeSH: C536962
  • GARD: 9294
  • MedDRA: -

Detailed information

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Additional information

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