How rare is Potocki-Lupski syndrome?

Potocki-Lupski syndrome affects an estimated 1 in 25,000 people worldwide. More than 50 affected individuals have been described in the medical literature.

How is Potocki-Lupski Syndrome diagnosed?

Establishing the Diagnosis Most individuals with PTLS are identified by chromosomal microarray performed in the context of evaluation for hypotonia, failure to thrive, developmental delay, intellectual disability, or autism spectrum disorder.

Can Marfan syndrome skip a generation?

Doctors there had more urgent news: The entire family could be at risk. “Dr. Bove told us we would need to be tested for the mutation that causes Marfan syndrome,” Post says. “He told us that Marfan does not skip a generation, so one of us likely had the syndrome.”

How many people have PTLS?

Potocki-Lupski syndrome (PTLS) occurs in approximately 1 in 25,000 births [1] and is associated with congenital anomalies and intellectual disability (ID) [2].

Are there any treatments for Marfan syndrome?

There’s currently no cure for Marfan syndrome. Treatment focuses on managing the symptoms and reducing the risk of complications. As Marfan syndrome affects several different parts of the body, your treatment programme will involve a number of healthcare professionals.

Should I have children if I have Marfan syndrome?

Pregnancy creates extra stress on the heart and blood vessels. The biggest concern for patients with Marfan syndrome is serious complications of the aorta, such as a tear or rupture that can cause death or serious injury to both you and your unborn baby. The risk is greatest if your aorta is dilated more than 4 cm.

Is there a cure coming soon for Marfan syndrome?

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing. In the past, people who had Marfan syndrome often died young.