Meyahealth
Home
ENES
HomeGeneticsConditionsSmith-Magenis syndrome
Back to Conditions
Smith-Magenis syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Smith-Magenis syndrome

Smith-Magenis syndrome is a developmental disorder marked by distinctive facial features, sleep disturbances, behavioral problems, and intellectual disability, typically caused by a deletion on chromosome 17.

Symptoms

Smith-Magenis syndrome is a developmental disorder that affects behavior, emotions, and learning processes. The major features of this condition include distinctive facial features, sleep disturbances, behavioral problems, mild to moderate intellectual disability, and delayed speech and language skills.

Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in infancy, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals.

Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, and they typically begin early in life. Affected people may have trouble falling asleep at night and awaken several times during the night and early morning. They may be very sleepy during the day.

People with Smith-Magenis syndrome typically have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. People with Smith-Magenis syndrome may have other behaviors, such as repetitive self-hugging or compulsively licking their fingers and flipping pages of books and magazines (a behavior known as "lick and flip").

Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), obesity, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome.

Frequency

Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. However, researchers believe that many people with this condition are not diagnosed, so the true prevalence may be closer to 1 in 15,000 individuals.

Causes

In most people with Smith-Magenis syndrome, the condition results from the deletion of a small piece of chromosome 17 in each cell. This deletion occurs on the short (p) arm of the chromosome at a position designated p11.2. The deleted segment most often includes approximately 3.7 million DNA building blocks (base pairs), also written as 3.7 megabases (Mb). (A duplication of this segment causes a related condition called Potocki-Lupski syndrome.) Occasionally the deletion is larger or smaller. All of the deletions affect one of the two copies of chromosome 17 in each cell.

Although the deleted region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, underlies many of the characteristic features of Smith-Magenis syndrome. All of the deletions known to cause the condition contain this gene. The RAI1 gene provides instructions for making a protein that helps regulate the activity (expression) of other genes. Although most of the genes regulated by the RAI1 protein have not been identified, this protein appears to control the expression of several genes involved in daily (circadian) rhythms, such as the sleep-wake cycle. Studies suggest that the deletion leads to a reduced amount of RAI1 protein in cells, which disrupts the expression of genes that influence circadian rhythms. These changes may account for the sleep disturbances that occur with Smith-Magenis syndrome. It is unclear how a loss of one copy of the RAI1 gene leads to the other physical, mental, and behavioral problems associated with this condition.

A small percentage of people with Smith-Magenis syndrome have a gene variant in the RAI1 gene instead of a chromosomal deletion. Although these individuals have many of the major features of the condition, they are less likely than people with a deletion to have short stature, hearing loss, and heart or kidney abnormalities. It is likely that, in people with a deletion, the loss of other genes in the deleted region accounts for these additional signs and symptoms; the role of these genes is under study.

Inheritance

Smith-Magenis syndrome is usually not inherited. This condition typically results from a chromosomal deletion or an RAI1 gene variant that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most people with Smith-Magenis syndrome have no history of the condition in their family.

In a small number of cases, people with Smith-Magenis syndrome have inherited the deletion or variant from an unaffected mother who had the genetic change only in her egg cells. This phenomenon is called germline mosaicism.

Other Names for This Condition

  • 17p- syndrome
  • 17p11.2 monosomy
  • Chromosome 17p deletion syndrome
  • Deletion 17p syndrome
  • Partial monosomy 17p
  • SMS

Frequently Asked Questions

The diagnosis is confirmed by a chromosomal microarray or fluorescence in situ hybridization (FISH) that detects a deletion on chromosome 17p11.2. The test requires a blood sample, usually taken by a phlebotomist. Results typically arrive in 2–4 weeks. A positive finding means the deletion is present; a negative result does not rule out the syndrome if clinical features are strong—additional testing may be needed. Discuss the implications and next steps with a genetic counselor.
Dental anomalies—including crowded teeth, malocclusion, and enamel defects—are common. Schedule a dental check‑up by age 2–3 to assess for early orthodontic needs. If your child shows signs of misaligned bite, frequent cavities, or difficulty chewing, refer to an orthodontist. Early intervention can prevent more extensive procedures later and improve oral function.
Many individuals with SMR have a reversed circadian rhythm, making them sleepy at night and alert in the morning. Use a consistent bedtime routine—dim lights, quiet activities, and a cool room temperature. A low dose of melatonin taken 30–60 minutes before bed can help reset the rhythm. Avoid screens and caffeine in the evening, and consider a light therapy box in the morning to reinforce daytime alertness. Regular sleep logs help track progress and guide adjustments.
Behavioral interventions such as Applied Behavior Analysis (ABA) focus on teaching alternative, positive behaviors and reinforcing them consistently. Create a predictable environment, use clear, simple instructions, and establish a calm-down space. Safety measures—such as removing sharp objects, using padded furniture, and supervising during high‑risk activities—reduce injury risk. In some cases, medications like selective serotonin reuptake inhibitors or antipsychotics may be considered under psychiatric guidance.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ