Genetic syndromes and other conditions
An inherited disease that affects the development of the back part of the brain. The baby may have floppiness and irregular breathing. Development and balance are affected.
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.
In Joubert syndrome, the brainstem and the middle part of the cerebellum develop differently. On MRI this appearance is called the molar tooth sign. The disease affects tiny projections on cells called cilia. This is why the kidneys, liver and eyes can also be affected. Symptoms can differ even within the same family.
Symptoms vary a lot from person to person.
For the diagnosis, the molar tooth sign must be seen on a brain MRI. The doctor assesses muscle strength, development and eye movements. A genetic test finds the cause in many people. Extra tests are done for the kidneys, liver and eyes.
Care is aimed at the symptoms and is teamwork. Physiotherapy, occupational therapy and speech therapy support development. Babies with breathing problems are monitored and supported if needed. The kidneys, liver and eyes are checked every year. Surgery may be needed for extra fingers or eye problems. In severe kidney disease, dialysis or a transplant can be done. Treatments specific to the disease are still being researched. The doctor who follows the disease decides which treatment is suitable.
Joubert syndrome is most often passed on through recessive inheritance. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. Rarely, dominant or X-linked inheritance is seen. In marriages between relatives, the chance of two carriers coming together may be higher. If the gene in the family has been found, carrier testing and diagnosis during pregnancy are possible. Genetic counselling is recommended.
Source: MedlinePlus Genetics: Joubert syndrome · NORD: Joubert Syndrome · Orphanet: Joubert syndrome (ORPHA:140874)
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
Patients with Joubert syndrome were studied at Istanbul University-Cerrahpaşa.
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.
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
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:140874
No matching ICD-11 entry was found.
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.