Smith-Magenis syndrome

Smith-Magenis syndrome

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About Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a genetic developmental disorder that affects many parts of the body.

It's caused by some missing genes on chromosome 17, or by changes or abnormalities in a gene on chromosome 17. This genetic change happens around the time of conception. Smith-Magenis syndrome isn't usually inherited.

Smith-Magenis syndrome is rare. It occurs in about 1 in 25 000 people, and affects boys and girls equally.

Children with Smith-Magenis syndrome are often also diagnosed with autism spectrum disorder, attention deficit hyperactivity disorder, obsessive compulsive disorder and mood disorders.

Signs and symptoms of Smith-Magenis syndrome

Physical characteristics
Children with Smith-Magenis syndrome can have:

  • facial features that include a broad, square face with deep-set eyes, full cheeks, a prominent lower jaw, a flattened bridge of the nose, a downturned mouth, and eyes looking in different directions (strabismus)
  • low muscle tone
  • short stature
  • curved spine (scoliosis)
  • hoarse voice
  • myopia (short-sightedness)
  • flat feet.

Cognitive signs
Children with Smith-Magenis syndrome can have:

  • developmental delay
  • mild to moderate intellectual disability
  • speech delay.

Behavioural signs
Children with Smith-Magenis syndrome often have:

  • sleep problems - for example, they might sleep during the day and be awake at night
  • temper tantrums and aggression problems
  • anxiety
  • attention difficulties
  • a tendency to injure themselves deliberately
  • a tendency to hug themselves repeatedly
  • reduced sensitivity to pain and temperature
  • eating difficulties, with a preference for soft foods.

Medical concerns linked to Smith-Magenis syndrome
Children with Smith-Magenis syndrome can have medical concerns like:

  • ear abnormalities (sometimes leading to hearing loss)
  • heart and kidney defects
  • retinal detachment.
Most children with Smith-Magenis syndrome have good long-term memory, happy and endearing personalities, and a good sense of humour.

Diagnosis and testing for Smith-Magenis syndrome

Health professionals diagnose Smith-Magenis syndrome by looking at the physical and other signs and symptoms listed above. They usually confirm the diagnosis with genetic testing.

Early intervention services for children with Smith-Magenis syndrome

Although there's no cure for Smith-Magenis syndrome, early intervention can make a difference. Through early intervention services, you can work with health professionals to choose therapy options to treat your child's symptoms, support your child, improve outcomes for your child and help your child reach her full potential.

The team of professionals involved in supporting you and your child might include paediatricians, psychologists, speech pathologists, physiotherapists, occupational therapists and special education teachers.

Financial support for children with Smith-Magenis syndrome

If your child has a confirmed diagnosis of Smith-Magenis syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community, and gives you funding for things like early intervention therapies or one-off items like wheelchairs.

Looking after yourself and your family

If your child has Smith-Magenis syndrome, it's easy to get caught up in looking after him. But it's important to look after your own wellbeing too. If you're physically and mentally well, you'll be better able to care for your child.

If you need support, a good place to start is with your GP and genetic counsellor. You can also get support from organisations like Genetic Alliance Australia.

Talking to other parents can be a great way to get support too. You can connect with other parents in similar situations by joining a face-to-face or an online support group.

If you have other children, these siblings of children with disability need to feel that they're just as important to you - that you care about them and what they're going through. It's important to talk with them, spend time with them, and find the right support for them too.


  1. Talford

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  2. Osweald

    I congratulate, what necessary words ..., excellent thought

  3. Akihn

    Same already discussed recently

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