Riley-Day Syndrome: Genetics, Symptoms, Diagnosis, Treatment, Outlook and Complications

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Riley-Day syndrome is a condition that affects the body’s nerves. This disorder is inherited when the mother and father of a child pass on a copy of the defective gene. Ashkenazi Jews are most often affected by this disorder with an average of 1 in 3,700 affected. A mutation affecting the gene known as IKBKAP on chromosome 9 causes this disorder..

Symptoms of Riley-Day Syndrome

The symptoms of this disorder are existent at birth and will worsen as the patient grows older. The symptoms include:

  • Breath holding spells in which unconsciousness can occur
  • Reduced ability to taste
  • Dry eyes
  • Inability to feel temperature changes or pain
  • Poor coordination
  • Recurring fevers
  • Seizures
  • Sweating during eating
  • Constipation
  • Diarrhea
  • Feeding difficulties
  • Prolonged episodes of vomiting
  • Poor growth
  • Recurring pneumonia
  • Skin blotching
  • Surface of the tongue is abnormally pale and smooth

Diagnosing Riley-Day Syndrome

The first thing a doctor will do is perform a thorough physical exam. During this exam, the doctor looks for specific things including:

  • Deep tendon reflexes that are either reduced or completely absent
  • Not having a reaction when histamine is administered intravenously
  • Pupils will be very small after specific eye drops are administered
  • No tears when emotions cause crying
  • Severe scoliosis
  • Recurrent high blood pressure
  • Hypotonia (specifically in babies)

Treating Riley-Day Syndrome

Doctors treat this genetic disorder in a number of ways. These treatments include the following:

  • Doctors prescribe anticonvulsants for those who have seizures
  • Treating aspiration pneumonia
  • Those with gastroesophageal reflux receive textured formula fed in an upright position
  • Spinal fusion or surgery
  • To keep blood pressure from dropping too low while standing, a doctor may recommend increase salt intake, caffeine, and fluid. Elastic stockings also prevent blood pressure changes caused by this condition.
  • Providing adequate fluids and nutrition
  • Anti-emetics to control vomiting
  • Protecting the patient from becoming injured
  • Medications to help prevent dry eyes by producing tears
  • Physical therapy targeted at the chest

Possible Complications and Outlook

With new advances in how Riley-Day syndrome is treated and diagnosed, the survival rate in constantly improving. As of May 2010, there is a 50 percent survival rate for infants born with this disorder.

The complications associated with this disorder range from being able to live with the disorder to very severe symptoms that may be life-threatening. The complications of this disorder include:

  • Torso and face blotching
  • Worsening of muscle tone
  • Torso and head excessive sweating
  • Drooling and dysphagia
  • Rapid heart rate and high blood pressure
  • Nausea and vomiting
  • Insomnia
  • Feet and hand mottling
  • Irritability

Further research will help to improve the treatment of this condition or find a way to prevent the condition during fetal development.


University of Maryland Medical Center. (2009). Riley-Day Syndrome – Overview. Retrieved on May22, 2010 from University of Maryland Medical Center:

Medline Plus. (2008). Riley-Day Syndrome. Retrieved on May 22, 2010 from Medline Plus: