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Joubert Syndrome

Joubert syndrome


Joubert syndrome is a well-documented but rare auto-somal recessive disorder. The syndrome is characterized by partial or complete absence of the cerebellar vermis (the connective tissue between the two brain hemispheres), causing irregular breathing and severe muscle weakness. Other features of the syndrome include jerky eye movements, abnormal balance and walking, and mental handicap. Additionally, there may be minor birth defects of the face, hands, and feet.


Marie Joubert (whose name is given to the condition) gave a detailed description of the syndrome in 1969. She wrote about four siblings (three brothers, one sister) in one family with abnormal breathing, jerky eye movements (nystagmus), poor mental development, and ataxia (staggering gait and imbalance). X-ray examination showed that a particular section of the brain, called the cerebellar vermis, was absent or not fully formed. This specific brain defect was confirmed on autopsy in one of these individuals. Her initial report also described a sporadic (non-inherited) patient with similar findings, in addition to polydactyly. Another name for Joubert syndrome is Joubert-Bolthauser syndrome.


Joubert syndrome affects both males and females, although more males (ratio of 2:1) have been reported with the condition. The reason why more males have the condition remains unknown.

Joubert syndrome is found worldwide, with reports of individuals of French Canadian, Swedish, German, Swiss, Spanish, Dutch, Italian, Indian, Belgian, Laotian, Moroccan, Algerian, Turkish, Japanese, and Portuguese origin. In all, more than 200 individuals have been described with Joubert syndrome.

Causes and symptoms

Although the underlying genetic cause remains unknown, there have been numerous instances of siblings (brothers and sisters) with Joubert syndrome. The parents were normal. A few families have also been seen where the parents were said to be closely related (i.e., may have shared the same altered gene within the family). For these reasons, Joubert syndrome is classified as an auto-somal recessive disorder. Autosomal means that both males and females can have the condition. Recessive means that both parents carry a single copy of the responsible gene. Autosomal recessive disorders occur when a person inherits a particular pair of genes that do not work correctly. The chance that this would happen to children of carrier parents is 25% (one in four) for each pregnancy.

It is known that the cerebellum and brain stem begin to form between the sixth and twelfth week of pregnancy. The birth defects seen in Joubert syndrome must occur during this crucial period of development.

The cerebellum is the second largest part of the brain. It is located just below the cerebrum, and is partially covered by it. The cerebellum consists of two hemispheres separated by a central section called the vermis. The cerebellum is connected to the spinal cord through the brain stem.

The cerebellum (and vermis) normally works to monitor and control movement of the limbs, trunk, head, and eyes. Signals are constantly received from the eyes, ears, muscles, joints, and tendons. Using these signals, the cerebellum is able to compare what movement is actually happening in the body with what is intended to happen, then send an appropriate signal back. The effect is to either increase or decrease the function of different muscle groups, making movement both accurate and smooth.

In Joubert syndrome, the cerebellar vermis is either absent or incompletely formed. The brain stem is sometimes quite small. The absence or abnormal function of these brain tissues causes problems in breathing and vision, and severe delays in development.

One characteristic feature of Joubert syndrome is the pattern of irregular breathing. The individuals's breathing alternates between deep rapid breathing (almost like panting) and periods of severe apnea (loss of breathing). This is usually noticeable at birth. The rate of respiration may increase more than three times that of normal (up to 200 breaths per minute) and the apnea may last up to 90 seconds. The rapid breathing occurs most often when the infant is awake, especially when they are aroused or excited. The apnea happens when the infants are awake or asleep. Such abnormal breathing can cause sudden death or coma, and requires that these infants be under intensive care. For unknown reasons, the breathing tends to improve with age, usually within the first year of life.

Muscle movement of the eye is also affected in Joubert syndrome. It is common for the eyes to have a quick, jerky motion of the pupil, known as nystagmus. The retina (the tissue in the back of the eye that receives and transmits visual signals to the brain) may be abnormal. Some individuals (most often the males) may have a split in the tissue in the iris of the eye. Each of these problems will affect their vision, and eye surgery may not be beneficial.

The central nervous system problem affects the larger muscles of the body as well, such as those for the arms and legs. Many of the infants will have severe muscle weakness and delays in development. They reach normal developmental milestones, such as sitting or walking, much later than normal. For example, some may learn to sit without support around 1920 months of age (normal is six to eight months). Most individuals are not able to take their first steps until age four or older. Their balance and coordination are also affected, which makes walking difficult. Many will have an unsteady gait, and find it difficult to climb stairs or run, even as they get older.

Cognitive (mental) delays are also a part of the syndrome, although this can be variable. Most individuals with Joubert syndrome will have fairly significant learning impairment. Some individuals will have little or no speech. Others are able to learn words, and can talk with the aid of speech therapy. They do tend to have pleasant and sociable personalities, but problems in behavior can occur. These problems most often are in temperament, hyperactivity, and aggressiveness.

Careful examination of the face, especially in infancy, shows a characteristic appearance. They tend to have a large head, and a prominent forehead. The eyebrows look high, and rounded, and the upper eyelids may be droopy (ptosis). The mouth many times remains open, and looks oval shaped in appearance. The tongue may protrude out of the mouth, and rest on the lower lip. The tongue may also quiver slightly. These are all signs of the underlying brain abnormality and muscle weakness. Occasionally, the ears look low-set on the face. As they get older, the features of the face become less noticeable.

Less common features of the syndrome include minor birth defects of the hands and feet. Some individuals with Joubert syndrome have extra fingers on each hand. The extra finger is usually on the pinky finger side (polydactyly). It may or may not include bone, and could just be a skin tag. A few of these patients will also have extra toes on their feet.


The diagnosis of Joubert syndrome is made on the following features. First, there must be evidence of the cerebellar vermis either being absent or incompletely formed. This can be seen with a CT scan or MRI of the brain. Second, the physician should recognize that the infant

has both muscle weakness and delays in development. In addition, there may be irregular breathing and abnormal eye movements. Having four of these five criteria is enough to make the diagnosis of Joubert syndrome. Most individuals are diagnosed by one to three years of age.

Treatment team

A pediatric neurologist usually sees children with Joubert syndrome. Physical, occupational, and speech and language therapists are important members of the treatment team.


During the first year of life, many of these infants require a respiratory monitor for the irregular breathing. For the physical and mental delays, it becomes necessary to provide special assistance and anticipatory guidance. Speech, physical, and occupational therapy are needed throughout life.


The unusual pattern of breathing as newborns, especially the episodes of apnea, can lead to sudden death or coma. A number of individuals with Joubert syndrome have died in the first three years of life. For most individuals, the irregular breathing becomes more normal after the first year. However, many continue to have apnea, and require medical care throughout their life. Although the true life span remains unknown, there are some individuals with Joubert syndrome who are in their 30s.



Joubert Syndrome Foundation Corporation. c/o Stephanie Frazer, 384 Devon Drive, Mandeville, LA 70448.


Alliance of Genetic Support Groups. <>.

Joubert Syndrome Foundation Corporation. <>.

Kevin M. Sweet, MS, CGC

Rosalyn Carson-DeWitt, MD

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