Williams Syndrome – Causes, Symptoms, Diagnosis & Treatment

By
Sherry Hight
-

10Other Tests

In addition to microarray analysis and FISH testing, your doctor can do other tests to help diagnose and confirm the presence of Williams syndrome. These include an echocardiogram, blood pressure check, or a kidney ultrasound. The results can determine common health issues caused by this disorder like abnormal patterns in the iris, slack joints, high blood pressure, or high levels of blood calcium. In fact, many people with Williams syndrome are diagnosed at a late age or even remain undiagnosed. This can significantly reduce their quality of life and lead to many progressive medical issues. [10]

Related Articles

Angelman Syndrome – Symptoms and Causes

Ailments & Conditions
Angelman syndrome is a genetic condition that causes considerable intellectual and developmental disability, sleep problems, and movement issues. Kids with this disorder tend to have some distinctive symptoms and features. However, it can be hard to diagnose them once...

Causes of Spinal Muscular Atrophy

Ailments & Conditions
Spinal muscular atrophy is a progressive neurodegenerative condition. This rare genetic disease is often triggered by mutations or alterations in the genes that produce proteins required for motor neuron function. There are many forms of spinal muscular atrophy, which...

Klinefelter Syndrome – Facts to Know

Ailments & Conditions
What Is Klinefelter Syndrome? Klinefelter syndrome is a common genetic disorder. It leads to abnormal developments only in males. Currently, the average time to diagnose this condition is in the mid 30s. However, many people still remain undiagnosed during their...

Spinal Muscular Atrophy – Diagnosis & Treatments

Ailments & Conditions
Spinal muscular atrophy is a rare genetic condition that can affect motor neurons in your spinal cord. This leads to weakness or deterioration of the muscles needed for movement. In most cases, symptoms tend to occur at birth or...

Spinal Muscular Atrophy Symptoms

Ailments & Conditions
Spinal muscular atrophy or SMA is a genetic disease. It causes muscles to become emaciated and weak over time. Most cases can be diagnosed in young children or babies. Currently, there is still no cure for the condition. However,...

What is Marfan Syndrome?

Ailments & Conditions
What Is Marfan Syndrome? Marfan syndrome is a genetic connective tissue condition. It would affect the usual development of the body because connective tissue plays a key role in supporting the skeletal structure and other body parts. In addition, the...

What is Prader-Willi Syndrome – 10 Facts You Need to Know

Ailments & Conditions
What Is Prader-Willi Syndrome? Prader-Willi syndrome is a genetic condition that can be passed from parents to their children. It is mostly present at birth, but diagnosis usually does not occur until later stages in life. People with this disorder...

What is Fragile X Syndrome (FXS)

Ailments & Conditions
What Is Fragile X Syndrome? Fragile X syndrome, also called Martin-Bell syndrome, is a genetic disorder that leads to developmental and intellectual disabilities. It may be passed down to children from their mothers or fathers. It is the most common...