Genetic syndromes and other conditions
A disorder of blood vessel development present from birth. There is a red birthmark on the face called a port-wine stain. The brain and eyes may also be affected.
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, Spanish). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Genetic syndromes and other conditions” group.
Before birth, a change happens in the GNAQ gene in some cells. This change leads to extra blood vessels forming in the skin of the face, the lining of the brain and the eye. Blood flow in the brain may be reduced. How severe the symptoms are varies from person to person.
There are three main signs, but not everyone has all of them.
The diagnosis is considered from the birthmark and the examination. An MRI with contrast is done of the brain. An EEG is done for seizures. Regular eye examinations are needed to check for glaucoma.
Treatment is aimed at the symptoms. The birthmark can be lightened with laser; several sessions may be needed. Seizures are controlled with medicine and, if needed, surgery. For glaucoma, eye drops or surgery are used. Physiotherapy, special education and lifelong eye follow-up are important. The doctor who follows the disease decides which treatment is suitable.
It is not inherited. The gene change happens by chance before birth, only in some cells. It is not passed on from the mother and father. Families can talk about their questions in genetic counselling.
Source: MedlinePlus Genetics: Sturge-Weber syndrome · NORD: Sturge Weber Syndrome
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
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
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeResearch and clinical trials
Eye doctors from Türkiye and Egypt studied children with raised eye pressure due to Sturge-Weber syndrome.
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.
Questions you can ask your doctor
ClinicalTrials.gov lists 2 active interventional studies for this disease. 1 is recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT07778810
Non-drug study (device, procedure, care, etc.)Active, not recruitingNCT04517565
See all studies on ClinicalTrials.gov · Joining clinical trials
TürkiyeResearch and clinical trials
Ankara University reviewed the brain MRIs of children with Noonan syndrome.
TürkiyeResearch and clinical trials
In Türkiye, 14 centers jointly studied children with Sotos syndrome and the similar Malan syndrome.
FranceResearch and clinical trials
In France, simvastatin was compared with placebo in children with Noonan syndrome.
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:3205
No separate ICD-11 code; WHO classifies this disease under: LD23
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.