Health Problems in Smith-Magenis Syndrome

A range of health difficulties are reported in Smith-Magenis syndrome

Vision problems are noted in Smith-Magenis syndrome. Myopia (near-sightedness) is one common issue, sometimes with retinal detachment.

Hearing problems are frequently noted and infantile hypotonia (lack of muscle tone) and scoliosis (curvature of the spine) are also common.

Peripheral neuropathy is when damage to the nerves at the peripheries (i.e. fingers and toes) causes unusual sensations or numbness in these areas.  It has been found in over 55-75% of individuals with Smith-Magenis syndrome and has been associated with self-injurious behaviour.

Sleep problems are also extremely common in individuals with Smith-Magenis syndrome, particularly difficulties with night waking, very early morning waking, and excessive daytime sleepiness. These have been linked to changes to the RAI1 gene.

Other health problems are more variable in nature, including:

• cardiac defects (37%)
• renal abnormalities – abnormalities associated with the kidneys, bladder, ureters and urethra (35%)
• thyroid abnormalities (29%)
• low antibodies (23%)
• seizures (11-30%)
• abnormal EEG without seizures (21%)
• forearm abnormalities (16%)
• facial clefts (9%)
• sleep difficulties (60-100%)

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Further information on health in Smith-Magenis syndrome can be found on these websites:

Smith-Magenis Foundation

Parents and Researchers Interested in Smith-Magenis Syndrome

Gene Reviews