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
Genetic syndromes and other conditions
Sotos syndrome
A genetic syndrome with overgrowth in childhood. The head is large and the child is taller than children of the same age. Learning difficulties may be seen.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
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, one copy of the NSD1 gene does not work. This gene controls genes involved in growth and development. This is why the child grows fast and development can be affected. Adult height is usually within the normal range.
Which symptoms can occur?
Symptoms vary from person to person. The following may be seen:
- A long, narrow face, high forehead, flushed cheeks, pointed chin
- Fast growth in childhood and a large head
- Learning difficulties and developmental delay
- Low muscle tone, delay in sitting and crawling
- Speech problems, for example stuttering
- Conditions such as autism, attention deficit or anxiety
- Curvature of the spine and seizures
- Sometimes heart or kidney problems
How is it diagnosed?
The doctor looks at the typical facial appearance, fast growth and developmental delay. Bone age is often advanced. A genetic test confirms the diagnosis by showing the change in the NSD1 gene.
Treatment and care
Treatment is planned according to each person's symptoms. Specialists in children's health, hormones, neurology and bones work together. The heart, kidneys, hearing and spine are checked regularly. Physiotherapy supports movement. Speech therapy, occupational therapy and special education are helpful. Sleep and behavior problems are also assessed. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
In about 95 percent of people, no one else in the family is affected. In these cases the gene change is new. The disease is passed on through dominant inheritance. This means that for each child of an affected person, the chance is 1 in 2. Genetic counselling is recommended.
Source: MedlinePlus Genetics: Sotos syndrome · NORD: Sotos Syndrome
Key facts
- How common is it?
- Prevalence: 1-9 per 1 000 000 (Europe)
- How is it inherited?
- Autosomal dominant · Autosomal recessive
- When does it usually start?
- Before birth, Newborn period
- Gene(s) involved
- NSD1, APC2
- 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 Sotos
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.
ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.
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
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
TürkiyeResearch and clinical trials
Bundgaard syndrome diagnosed for the first time in Türkiye
In Diyarbakır, Bundgaard syndrome, an inherited heart rhythm disorder, was identified in a 41-year-old patient who sought care for dizziness and chest pain.
News reportBundgaard
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:821
No separate ICD-11 code; WHO classifies this disease under: LD2C
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.