Riley-Day Syndrome Facts

An In-depth Look at a Hereditary Disorder

Riley-Day Syndrome is a rare, inherited disorder that is commonly found in people of Eastern European Jewish extraction. While it does appear in other nationalities, the occurrence is much rarer. The disorder affects the nervous system and appears shortly after birth. Over time, the disorder progresses, and symptoms may become more severe.

Why Does Riley-Day Syndrome Occur?

Riley-Day Syndrome is the result of a mutation of a specific gene, IKBKAP that is found in chromosome 9 in the human body. At least 1 in 3,700 people of Eastern European Jewish ancestry are affected by the disorder. Some adults may be carriers for the disorder, without showing any symptoms, worsening the chances of their children developing Riley-Day Syndrome.

What Are the Symptoms of Riley-Day Syndrome?

There are several symptoms associated with Riley-Day Syndrome. They include an inability to thrive, or poor growth in children, difficulty in taking food which can lead to aspiration of food particles into the lungs, causing pneumonia, as well as sweating while eating. Seizures may be present as well as episodes of high blood pressure. Children affected by Riley-Day Syndrome may hold their breath, experience alternating bouts of diarrhea and constipation, and skin blotches may occur. Frequent bouts of vomiting are common as well.

Other common symptoms include an unsteadiness in gait or poor coordination, poor muscle tone, a lack of the sense of taste, scoliosis as well and an unusually smooth tongue. One of the hallmark symptoms is the insensitivity to pain, making the syndrome very dangerous for young children. Many sufferers do not experience normal pain sensations, such as chafing of the skin, dry eyes, burns and pressure. This insensitivity does not always continue for internal pain, and many sufferers can feel internal pain, such as menstrual cramps.

How is Riley-Day Syndrome Diagnosed?