Timothy syndrome

MONDO:0010979

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.

Also known as: TIMOTHY syndrome, TS, Timothy syndrome, long QT syndrome-syndactyly syndrome, LQT8, long QT syndrome 8, long QT syndrome type 8

1 clinical trial for this condition and its sub-types, 1 tagged with Timothy syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Autosomal dominant disease (699) ↑ Familial long QT syndrome (11) ↑ CACNA1C-related disorder (1)

Sub-types of Timothy syndrome

Timothy syndrome, classic type 0 trials · 1 incl. sub-types
2 sub-types
- Timothy syndrome type 1 1 trial
- Timothy syndrome type 2 0 trials
Timothy syndrome, atypical type 0 trials

Including sub-types (1) Tagged with Timothy syndrome (1)

Not yet recruiting 1

First human trial of TS1-ASO aims to tame rare genetic brain disorder

Disease control Not yet recruiting

This first-in-human trial tests a genetic drug called TS1-ASO in 5 children with Timothy Syndrome, a rare condition causing severe heart and brain problems. The drug is injected into the spine to target the genetic root of the disease. The main goal is to check safety and how the…

Phase 1/2 • Sponsor: Stanford University • Aim: Disease control

Last updated Jun 27, 2026 13:00 UTC

Timothy syndrome

Where it sits in the disease tree

First human trial of TS1-ASO aims to tame rare genetic brain disorder