Timothy syndrome

(redirected from Timothy's syndrome)

Timothy syndrome

rare congenital disorder of calcium channel (MIM #601005) characterized by multiorgan abnormalities, long QT intervals, digital webbing, immune deficiency, cognitive deficiencies, autism, and death usually before age 3.

Timothy syndrome

rare congenital disorder of calcium channel (MIM #601005) characterized by multiorgan abnormalities, long QT intervals, digital webbing, immune deficiency, cognitive deficiencies, autism, and death usually before age 3.
Farlex Partner Medical Dictionary © Farlex 2012

Timothy syndrome

A disorder (OMIM:601005) characterised by multiorgan dysfunction including lethal cardiac arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycaemia, cognitive abnormalities and autism.

Molecular pathology
Defects of CACNA1C on chromosome 12p13.3, which encodes the alpha-1C subunit of a voltage-dependent N-type calcium channel, cause Timothy syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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Children affected by Timothy's syndrome often show symptoms of autism spectrum disorders along with a constellation of physical problems.