Timothy syndrome

Also known as: Long QT syndrome type 8 (syndromic)

Multisystem disorder with severe QT prolongation, syndactyly, congenital heart disease and autism.

Medical specialty: Cardiology
Subspecialty: Cardiology / Cardiac electrophysiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, onset in infancy
Gene(s) involved: CACNA1C

Etiology & mechanism

Gain-of-function CACNA1C variants cause loss of voltage-dependent inactivation of the L-type calcium channel.

Gene(s) involved (1)

CACNA1C

Symptoms & signs (10)

2:1 av blockautismcongenital heart defectsdevelopmental delayfacial dysmorphismhypoglycemiaimmune deficiencymarked qt prolongationseizuressyndactyly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.