TürkiyeResearch and clinical trials
10 years of Trisomy 18 and 13 data in Istanbul: some children lived longer
Istanbul's Zeynep Kamil Hospital retrospectively reviewed ten years of records.
Peer-reviewed publicationTrisomy 18
Genetic syndromes and other conditions
Edwards syndrome (trisomy 18)
A condition caused by an extra chromosome 18. The baby's growth and many organs are affected. Heart problems and developmental delay are common.
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?
Cells normally have two copies of chromosome 18. In this condition there are three. The extra genetic material disturbs the baby's development in the womb. Many organs, such as the heart, kidneys and brain, can be affected. Mosaic and partial types may be milder.
Which symptoms can occur?
Every baby is different; some or most of the signs may be seen.
- Slow growth in the womb and low birth weight
- Heart problems (common)
- A small head, small jaw and mouth, low-set ears
- Clenched fists and overlapping fingers
- Cleft lip or palate, clubfoot (sometimes)
- Kidney, breathing and digestive problems
- Developmental delay and learning difficulties
How is it diagnosed?
During pregnancy, screening can be done with a blood test and ultrasound. If there is suspicion, a definite diagnosis is made by taking a sample of the amniotic fluid or the placenta. After birth, a chromosome test confirms the diagnosis and identifies the type.
Treatment and care
There is no treatment that removes the condition. Care is planned according to the child's needs. Heart, breathing and digestive problems are monitored; surgery is done if needed. Physiotherapy, occupational therapy and speech therapy provide support. For severe symptoms, comfort-focused (palliative) care is offered. The aim is to protect the quality of life of the child and the family. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
It is usually not inherited. It happens by chance when the egg or sperm is formed. It has nothing to do with anything the parents did. The chance increases as the mother's age increases. Rarely, a partial type can come from a balanced chromosome change in the mother or father. Genetic counselling guides the family about future pregnancies.
Source: MedlinePlus Genetics: Trisomy 18 · NHS: Edwards' syndrome (trisomy 18) · MedlinePlus: Trisomy 18
Key facts
- How common is it?
- Prevalence: 1-9 per 1 000 000 (Europe)
- When does it usually start?
- Before birth, Newborn period
- 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
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 Trisomy 18
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
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:3380 · ICD-11 LD40.2
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.