Joubert syndrome Dr Trisha Macnair A rare inherited disorder in which there are involuntary movements and breathing problems in infancy.

In this article

What is Joubert syndrome? Symptoms

Causes and risk factors Treatment and recovery

Advice and support

Joubert syndrome (also known as cerebellar vermis agenesis or cerebelloparenchymal disorder IV) is a rare inherited disorder of the brain.

An area at the back of the brain which is important for balance and co-ordination, called the cerebellum normally has two interconnected halves or hemispheres. In Joubert syndrome the connection between the two halves, known as the cerebellar vermis, fails to develop properly. As a result, one of the main features of Joubert syndrome is poorly controlled or unsteady movement, known as ataxia.

The severity of the condition varies from child to child, depending on the extent of the abnormalities of the brain. Some children are only mildly affected while others (even within the same family) have severe disabilities.

Joubert syndrome presents in infancy with an abnormal breathing pattern. An affected baby may pant or breath rapidly for a while (this is known as episodic tachypnoea) and then stop breathing (this is called apnoea).

Other features characteristic of the syndrome include:

• decreased muscle tone, especially in infancy ('floppy baby')
• abnormal, jerky eye movements
• abnormal development of the retina in the eye, or the iris (coloboma), which can interfere with vision
• physical deformities, for example, extra fingers and toes, cleft lip or palate, abnormalities of the tongue
• cysts in the kidneys
• seizures
• delayed motor and intellectual development
• learning difficulties

Joubert syndrome is a genetic abnormality inherited in an autosomal recessive fashion. This means that if both parents are carriers, there is a 1 in 4 chance that each child will have the disease.

Joubert syndrome cannot be cured, but treatment is very important to help with symptoms such as breathing problems and to support the child's development. This may include physical therapies, speech therapy and special schooling.

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This article was last medically reviewed by Dr Orlena Kerek in February 2009