Living with Smith-Magenis syndrome
A genetic condition that affects behavior, sleep and learning, with distinctive facial features.
Understanding Smith-Magenis syndrome
Major features include distinctive facial features, sleep problems, behavior problems, mild to moderate intellectual disability, and delayed speech. People often have trouble falling asleep, wake often at night and are sleepy in the day. They tend to be affectionate and engaging, and may also have tantrums, aggression, anxiety and self-injury. Short stature, scoliosis, obesity and a hoarse voice can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sleep problems
- Mild to moderate intellectual disability
- Delayed speech and language
- Tantrums, anxiety and attention problems
- Broad, square face
- Short stature and scoliosis
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in RAI1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS) may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS)
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS) and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the RAI1 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: 17p11.2 microdeletion syndrome; chromosome 17p11.2 deletion syndrome; smith magenis syndrome; smith-magenis syndrome, isolated cases; sms
Patient organizations
- Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS)Smith-Magenis syndrome · United States
- Organization for Autism ResearchSmith-Magenis syndrome · United States
- SMS Research FoundationSmith-Magenis syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Smith-Magenis syndrome.
Explore research for Smith-Magenis syndrome
Explore actively recruiting Smith-Magenis syndrome studies with HealthSpark.
Find actively recruiting studies for Smith-Magenis syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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