Riley-Day syndrome

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Chromosomes and DNA

Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)

• Breath holding spells (can lose consciousness)
• Constipation
• Decreased taste
• Diarrhea
• Dry eyes
• Feeding difficulties
• Inability to feel pain and changes in temperature (can lead to injuries)
• Lack of tears when emotional crying
• Long episodes of vomiting
• Poor coordination - unsteady walk
• Poor growth
• Repeated fevers
• Repeated pneumonia
• Seizures
• Skin blotching
• Sweating while eating
• Unusually smooth, pale tongue surface

Symptoms are present at birth and grow worse over time.

The health care provider will perform a physical exam. The patient may have:

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• Absent or decreased deep tendon reflexes
• Lack of a response after receiving a histamine injection (normally redness and swelling would occur)
• Lack of tears with emotional crying
• Low muscle tone (hypotonia), especially in babies
• Repeated episodes of high blood pressure
• Severe scoliosis
• Tiny pupils after receiving certain eye drops

Blood tests are available to check for the IKBKAP gene. The detection rate in the Ashkenazi Jewish population is greater than 99%.

Review Date: 10/10/2010
Reviewed By: Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine. Also reviewed by Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).