Condition

Smith-Magenis Syndrome

What You Need to Know

Key Symptoms

Children with Smith-Magenis syndrome often have delays with speech and learning. Other symptoms may include:

Cognitive developmental issues
Short stature
Scoliosis
Limited sensation of pain or temperature
Raspy or hoarse voice
Hearing and/or vision problems
Excessive weight gain

Diagnosis

Smith-Magenis syndrome is diagnosed with a genetic blood test usually when children exhibit several symptoms of the syndrome.

Treatment

While there is no cure for this syndrome, doctors and therapists can help manage challenges and support development with treatment such as:

Early intervention to help with developmental milestones
Therapies such as occupational, speech-language, physical and behavioral
Medication to treat co-existing conditions such as ADHD or sleep issues

Frequently Asked Questions

What is Smith-Magenis syndrome?

Smith-Magenis syndrome is a rare genetic condition that affects development, learning and behavior. Children with this condition often have delays with speech and learning, and they may need extra support in their daily lives.

Many children have a strong and friendly personality but can also have challenges with sleep, attention, and managing feelings, which may lead to frustration or behaviors like tantrums or self-hugging.

Doctors and therapists can help manage these challenges and support development.

Although this is a lifelong condition, with the right care and support, children with Smith-Magenis syndrome can make progress, build skills and enjoy meaningful connections with others.

What are the symptoms of Smith-Magenis syndrome?

Developmental delays and learning differences
Speech and language delays
Low muscle tone during infancy
Feeding difficulties in infancy
Sleep disturbances
Behavioral and emotional regulation challenges
Sensory processing differences
Attention difficulties, hyperactivity and impulsivity
Distinctive facial features that become more recognizable with age
Tendency toward weight gain or obesity in childhood and adolescence

How is Smith-Magenis syndrome diagnosed?

What is the recommended treatment for Smith-Magenis syndrome?

There is currently no cure for Smith-Magenis syndrome. Treatment focuses on addressing specific symptoms and supporting development, health, communication, learning and quality of life. Care may involve:

Developmental therapies
Speech-language therapy
Occupational therapy
Educational supports
Behavioral and mental health services
Sleep management strategies
Treatment of associated medical concerns

A coordinated, multidisciplinary approach is often most effective. Children's National provides this care through our dedicated Smith-Magenis Syndrome Clinic. To learn more about it or request an appointment, email the Neurodevelopmental Pediatrics team.

Meet the Providers Who Treat Smith-Magenis Syndrome

View our specialists

Departments that Treat Smith-Magenis Syndrome

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Neurology

Our pediatric neuroscience team is the nation's largest, bringing extensive experience to patients and families. Each of our neurologists is specially trained in child neurology with expertise in specific areas. We use advanced diagnostic tests and minimally invasive, effective treatments for complex neurological conditions.

Neurogenetics

Children's National provides advanced comprehensive care for children and families affected by neurogenetic conditions.

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Neurodevelopmental Pediatrics

Our neurodevelopmental pediatricians evaluate and coordinate care for patients with developmental needs from birth to age 21. We address disorders that affect thinking and functioning, including behavior or learning difficulties, autism, brain tumors and other developmental issues. Learn more about the comprehensive care our team provides.