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.
It is inherited as autosomal dominant trait.
Last update: March 2008