Timothy syndrome (medical condition): A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy.
See also:
Timothy syndrome:
»Introduction: Timothy syndrome
»Symptoms of Timothy 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.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.
Timothy syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Timothy syndrome, or a subtype of Timothy syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when if affects 1 person per 2,000.
They list Timothy syndrome as a "rare disease".
Source - Orphanet
Timothy syndrome (medical condition): See Timothy syndrome (disease information).
»Introduction: Timothy syndrome
»Symptoms of Timothy syndrome
Source - NIH
Source: Diseases Database
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