Smith-magenis syndrome

Overview

What is Smith Magenis syndrome?

Smith Magenis syndrome (SMS) is a genetic disorder that affects many parts of a person’s body. It is caused by missing information in a gene called RAI1. The main symptoms of Smith Magenis syndrome are:

  • Developmental delay (especially in speech and language)
  • Intellectual disabilities
  • Problems with sleep
  • Behavior problems
  • Unique facial features

Their faces are often square shaped with a large jaw. The middle of the face is flat. Sleep problems usually begin during childhood and include problems falling asleep at night and being very tired during the day. Behavior problems can include severe temper tantrums, aggression, anxiety, difficulty paying attention, and difficulty learning. Injuring themselves is common in children with SMS. A unique symptom that is not seen in many other genetic disorders is called "lick and flip". This means that individuals lick their fingers and turn the pages of magazines or books over and over again. Other symptoms may include short height, vision problems,hearing problems, and occasionally heart and kidney problems. The type of doctor that usually diagnoses SMS is a medical geneticist. They can help coordinate care. To find a genetics clinic near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

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Are there other names for Smith Magenis syndrome?

How common is Smith Magenis syndrome?

What is the usual abbreviation for Smith Magenis syndrome?

Are there other names for Smith Magenis syndrome?

Other names for Smith Magenis syndrome include:

  • Chromosome 17p11.2 Deletion Syndrome
  • Smith-Magenis Chromosome Region (SMCR)
  • Chromosome 17, interstitial deletion 17p
  • del(17)(p11.2)
  • SMS

The type of doctor that usually diagnoses SMS is a medical geneticist. They can help coordinate care. To find a genetics clinic near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

How common is Smith Magenis syndrome?

Smith Magenis syndrome (SMS) occurs in at least 1 in 25,000 individuals. However, researchers think that some people may go through their whole life and never be diagnosed, meaning that this disorder may be more common than is currently realized.

What is the usual abbreviation for Smith Magenis syndrome?

SMS is the usual abbreviation for Smith Magenis syndrome.

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