Joubert syndrome

Joubert syndrome is a rare genetic condition characterized by abnormal brain development that includes the absence or underdevelopment of the cerebellar vermis (an area of the brain that controls balance and coordination) and a malformed brain stem. It can be inherited (both parents must have a copy of one of the many the gene mutations that causes the disorder) or sporadic (happening on its own).

Symptoms include:

• Decreased muscle tone (hypotonia)
• Abnormal eye movements
• Impaired intellectual development
• Inability to coordinate voluntary muscle movements (ataxia)
• Abnormally rapid breathing (hyperpnea)

• Physical deformities (polydactyly, cleft lip or palate, and tongue abnormalities)
• Kidney and liver abnormalities
• Seizures

These brain abnormalities are called the “molar tooth sign.” The severity of an individual case depends on the extent of the “molar tooth sign” and the involvement of other organs like the kidneys or liver. Some individuals have a mild form of the disorder with minimal motor (movement) disability and good mental development, to severe motor disability with moderate impaired mental development and multi-organ impairments.

Current treatment options are symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children, as well as regularly monitoring symptoms. Routine screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders is highly recommended.

How can I or my loved one help improve care for people with Joubert syndrome?

Joubert syndrome is considered a rare disease, which often means there is not much information known about it. This is usually the case because doctors and researchers do not see many people with iniencephaly, which makes it hard to learn from them through observations or large studies.

Consider participating in a clinical trial so clinicians and scientists can learn more about Joubert syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Joubert syndrome at Clinicaltrials.gov.

Where can I find more information about Joubert syndrome?

For more information, please visit:

Genetic and Rare Diseases (GARD) Information Center

Joubert Syndrome and Related Disorders Foundation
Phone: 614-864-1362

MedlinePlus

Content source: https://www.ninds.nih.gov/health-information/disorders/joubert-syndrome Accessed July 13, 2023.

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