Joubert Syndrome
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Cerebellar Vermis is a part of a brain that is responsible for monitoring coordination between different parts of the body and controlling balance. Poor development or the absence of Cerebellar Vermis in brain is certainly a deformity and this is termed as Joubert Syndrome. This is a rare genetic defect and it is also known as cerebelloparenchymal disorder IV or cerebellar vermis agenesis.

Causes of Joubert Syndrome

Genetic disorder is obviously the cause of this rare disease. Cerebellum is the important part of a brain and this controls co-ordination and balance of a person. Cerebellum is divided into two parts which are known as hemispheres or halves.

These two hemispheres are well connected by cerebellar vermis. If in any case, cerebellar vermis doesn’t develop properly or can’t maintain a standard communication between these two halves of Cerebellum, the symptoms of Joubert syndrome begins to emerge. When this thing aggravates, a person may have to face some catastrophic consequences.

Malformation of brain stem, which monitors some essential activity of a human being for example breathing, is another prominent cause of Joubert Syndrome. This thing is generally noticed in the initial stage of childhood. Autosomal recession, an inherited genetic disorder is another cause of Joubert Syndrome.

It has been observed that parents carry an abnormal gene but at the same time they also carry a normal gene. This thing helps to keep a fine balance. But when an infant gets both abnormal genes from his/her parents, Joubert Syndrome begins to develop in his/her body. This thing generally occurs in those families where father and mother both are from consanguineous families.

Symptoms of Joubert Syndrome

If an infant is suffering from Joubert Syndrome, one can notice some certain and obvious symptoms which includes abnormal breathing which is also known as hyperpnea. Sudden jerking movement of eyes and slow mental development are some of the pertinent signs of this syndrome. Sporadic and unnatural movement in muscles is another important symptom of Joubert syndrome in infants.

Some physical deformities can help to trace out the fact whether a person is suffering from this syndrome or not. Large toes and fingers and some abnormalities in the shape of tongue are also some conspicuous features of this disease. An abnormal growth of retina that may create an obstacle in vision is another important symptom of this syndrome. Kidneys can be affected by this syndrome.

If a person has cysts in his kidneys, he must consult with a practitioner because there is a greater chance of being affected by the presence of this syndrome. Facing difficulties in learning new things is another sign of this syndrome. The severity of the symptoms can vary depending upon various factors.

Treatment of Joubert Syndrome

Though complete cure is not possible yet some treatments have been developed to bring down the severity of the symptoms of Joubert syndrome. If a child is suffering from breathing problem, physical therapy can help him to ameliorate the situation. Speech therapy can help those children who cannot talk well. Special schooling can also help to reduce the severity of the symptoms of this syndrome.

Some treatments have been developed to support those persons who are attacked by the Joubert syndrome.

MRI scan or magnetic resonance imaging scan is sometimes done so that a practitioner can treat a patient more efficiently. Prenatal testing, where ultrasound is used to examine the condition of a fetus, can also be done to eliminate defective fetus. This testing is generally executed in those families whose infants are susceptible to this syndrome.


As Joubert syndrome can hinder a person from doing some simple and regular works, it is advisable that, one should consult with an experienced practitioner forthwith. If an infant is facing some difficulty in breathing, immediate medical attention is needed so that one can avoid any kind of unpleasant consequence.

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it is helpful for me to know the problems of behaviour.
#1 - vidushi - 02/15/2012 - 02:15
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