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Diseases » Joubert Syndrome » Summary

What is Joubert Syndrome?

What is Joubert Syndrome?

  • Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance.
  • Joubert Syndrome: Partial or complete absence of the cerebellar vermis, episodic tachypnea, neonatal apnea, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. Leber amaurosis (blindness with normal optic fundi and brain and kidney abnormalities) may be associated.
    Source - Diseases Database

Joubert Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Joubert Syndrome, or a subtype of Joubert Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Joubert Syndrome as a "rare disease".
Source - Orphanet

Joubert Syndrome: Introduction

Types of Joubert Syndrome:

Broader types of Joubert Syndrome:

How many people get Joubert Syndrome?

Prevalance of Joubert Syndrome: rare

How serious is Joubert Syndrome?

Prognosis of Joubert Syndrome: Variable. Disability ranges from mild problems to moderate mental retardation.
Complications of Joubert Syndrome: see complications of Joubert Syndrome
Prognosis of Joubert Syndrome: The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation. (Source: excerpt from NINDS Joubert Syndrome Information Page: NINDS)

What causes Joubert Syndrome?

Causes of Joubert Syndrome: see causes of Joubert Syndrome

What are the symptoms of Joubert Syndrome?

Symptoms of Joubert Syndrome: see symptoms of Joubert Syndrome

Complications of Joubert Syndrome: see complications of Joubert Syndrome

Onset of Joubert Syndrome: usually infancy

Can anyone else get Joubert Syndrome?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Joubert Syndrome: Testing

Diagnostic testing: see tests for Joubert Syndrome.

Misdiagnosis: see misdiagnosis and Joubert Syndrome.

How is it treated?

Doctors and Medical Specialists for Joubert Syndrome: Neurologist ; see also doctors and medical specialists for Joubert Syndrome.
Treatments for Joubert Syndrome: see treatments for Joubert Syndrome

Organs Affected by Joubert Syndrome:

Organs and body systems related to Joubert Syndrome include:

Name and Aliases of Joubert Syndrome

Main name of condition: Joubert Syndrome

Class of Condition for Joubert Syndrome: genetic

Other names or spellings for Joubert Syndrome:

Joubert-Boltshauser syndrome, familial cerebellar vermis agenesis, cerebello-parenchymal disorder IV, CPD IV, cerebellar vermis aplasia, Cerebelloparenchymal disorder 4, Cerebellar vermis agenesis, Cerebelloparenchymal disorder IV (CPD IV)

CPD IV, Cerebelloparenchymal disorder type 4, Familial aplasia of vermis, Joubert-Boltshauser syndrome Source - Diseases Database

Cerebellar vermis agenesis, Cerebelloparenchymal disorder IV, Joubert-Boltshauser Syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Joubert Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Joubert Syndrome:


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