Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Timothy syndrome

Synonym(s) LQT8
Long QT syndrome type 8
Long QT syndrome-syndactyly syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset -
  • I45.8
  • C1832916
  • C536962
MedDRA -


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.


Less than 20 cases have been reported worldwide.


Timothy syndrome is caused by mutations in the CACNA1C gene.

Genetic counseling

It is inherited as autosomal dominant trait.

Expert reviewer(s)

  • Pr Robert ANDERSON

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Emergency guidelines
Anesthesia guidelines
Review article
Guidance for genetic testing
Article for general public
Clinical genetics review
Disability factsheet
Get Acrobat Reader
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.