USAResearch and clinical trials
First growth charts published for Smith-Magenis syndrome
Researchers in the USA prepared separate growth charts for children with Smith-Magenis syndrome.
Peer-reviewed publicationSmith-Magenis
Genetic syndromes and other conditions
Smith-Magenis syndrome (SMS)
A genetic syndrome that affects development, behavior and sleep. Learning difficulties and sleep problems at night are common.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
Orphanet has a guideline for emergency doctors for this disease (language: French, Italian). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Genetic syndromes and other conditions” group.
Understanding the disease
This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.
What happens in this disease?
In most people, a small piece of chromosome 17 is missing. The main cause is the loss of the RAI1 gene in this piece. This gene affects the genes that control the sleep–wake pattern. Learning, behavior and sleep are affected.
Which symptoms can occur?
Symptoms vary from person to person. The following may be seen:
- Waking often at night, dozing during the day
- Mild or moderate learning difficulties
- Delayed speech
- Temper tantrums, impulsiveness, attention problems
- Self-harm, for example biting or head banging (common)
- A broad, square face and deep-set eyes
- Short stature, curvature of the spine, excess weight
- Sometimes hearing or vision problems
How is it diagnosed?
The doctor looks at the typical signs and the history. A chromosome test or a microarray test on a blood sample shows the missing piece. Sometimes a genetic test of the RAI1 gene confirms the diagnosis.
Treatment and care
There is no treatment that removes the disease. Care is aimed at the symptoms and is provided by a team. Early support, special education, speech therapy and physiotherapy are important. For behavior problems, behavioral therapy and, if needed, medicine are considered. Medicines that support the sleep pattern can be used. The heart, kidneys, hearing and vision are checked regularly. Psychosocial support for the whole family is important. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
This condition is usually not inherited. The change most often happens by chance when the egg or sperm is formed or early in pregnancy. Usually no one else in the family is affected. Rarely, it can be passed on from a healthy mother. Genetic counselling helps the family understand their risk.
Source: MedlinePlus Genetics: Smith-Magenis syndrome · NORD: Smith-Magenis Syndrome
Key facts
- How common is it?
- Prevalence: 1-9 per 100 000 (Europe)
- How is it inherited?
- Autosomal dominant
- When does it usually start?
- Adolescence, Adulthood, Childhood, Infancy, Newborn period
- Gene(s) involved
- RAI1
- Reliable sources
- MedlinePlus (for families) · Orphanet
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
You are not alone: patient associations in Türkiye
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Guides related to this disease
- Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.
Support and help
- In an emergency in Türkiye, call 112.
- For psychological and social support, the ALO 183 Social Support Line (24/7, free from within Türkiye): alo183.aile.gov.tr
- For carers: Looking after yourself as a caregiver
- Preparing for a doctor visit · Collect your questions and symptom notes on one page, then print it and take it with you.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
News about Smith-Magenis
Clinical trials (ClinicalTrials.gov)
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.
Questions you can ask your doctor
- Could this trial be suitable for us?
- If we take part, how would current treatment and check-ups be affected?
- Where does the trial take place, and how are travel and accommodation handled?
- What happens if we want to leave the trial?
ClinicalTrials.gov lists 1 active interventional study for this disease. None is recruiting right now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
- Parent and Infant Inter(X)Action Intervention (PIXI)
Non-drug study (device, procedure, care, etc.)Enrolling by invitationNCT03836300
See all studies on ClinicalTrials.gov · Joining clinical trials
Genetic syndromes and other conditions: other news
TürkiyeResearch and clinical trials
Brain MRI findings in more than half of children with Noonan syndrome in Ankara
Ankara University reviewed the brain MRIs of children with Noonan syndrome.
Peer-reviewed publicationNoonan
TürkiyeResearch and clinical trials
Sotos syndrome study from 14 centers in Türkiye: 48 children studied
In Türkiye, 14 centers jointly studied children with Sotos syndrome and the similar Malan syndrome.
Peer-reviewed publicationSotos
FranceResearch and clinical trials
In Noonan syndrome, the cholesterol drug simvastatin did not benefit growth in a phase 3 trial
In France, simvastatin was compared with placebo in children with Noonan syndrome.
Peer-reviewed publicationNoonan
Medical codes (for talking with your doctor and finding sources)
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:819
No separate ICD-11 code; WHO classifies this disease under: LD44.H1
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.