Timothy syndrome
Timothy Syndrome
Timothy Syndrome (pronounced: ti-MOH-thee SIN-drohm) is a rare genetic disorder that affects multiple parts of the body, including the heart, nervous system, and physical development. The condition is named after Dr. Katherine W. Timothy, who first described it in 1989.
Etymology
The syndrome is named after Dr. Katherine W. Timothy, a pediatric cardiologist who first described the condition. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Definition
Timothy Syndrome is a rare, multisystem disorder characterized by a prolonged QT interval on an ECG (a condition known as LQTS), distinctive facial features, webbing of fingers and toes (Syndactyly), and developmental delay. It is caused by mutations in the CACNA1C gene.
Symptoms
Symptoms of Timothy Syndrome may vary among individuals. They can include cardiac arrhythmias, developmental delay, syndactyly, and distinctive facial features such as a low hairline, thick eyebrows, and a thin upper lip. Some individuals may also have immune system abnormalities and episodes of low blood sugar (Hypoglycemia).
Causes
Timothy Syndrome is caused by mutations in the CACNA1C gene. This gene provides instructions for making a protein that forms a channel, which controls the flow of calcium ions into cells. Mutations in this gene disrupt the function of these channels, leading to the various symptoms of Timothy Syndrome.
Diagnosis
Diagnosis of Timothy Syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests can include an ECG, genetic testing, and a physical examination.
Treatment
Treatment of Timothy Syndrome is directed toward the specific symptoms that are apparent in each individual. This can include medications to manage cardiac arrhythmias, physical therapy to improve motor skills, and special education services for developmental delay.
Related Terms
External links
- Medical encyclopedia article on Timothy syndrome
- Wikipedia's article - Timothy syndrome
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