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Timothy syndrome

Disease definition

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.

ORPHA:65283

  • 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
  • UMLS: C1832916
  • MeSH: C536962
  • GARD: 9294
  • MedDRA: -

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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.