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What Is Joubert Syndrome?

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  • Written By: Mary McMahon
  • Edited By: O. Wallace
  • Last Modified Date: 09 November 2014
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Joubert syndrome is a rare congenital abnormality which involves the cerebellar vermis, a part of the brain responsible for coordination and the sense of balance. The severity of this condition varies, depending on whether the cerebellar vermis is partially malformed or entirely absent, and the condition can also be complicated by comorbidities, other conditions and abnormalities which may occur at the same time. Some cases of Joubert syndrome are diagnosed in utero with the use of routine ultrasound screening, while others may be diagnosed after birth with medical imaging studies which can detect brain abnormalities.

Some cases of Joubert syndrome appear to have a genetic connection. Families with a history of certain genetic conditions can be predisposed to Joubert syndrome, and this condition can appear in concert with an inherited disease. In other cases, it appears to be the result of a spontaneous mutation which interferes with the formation of the cerebellar vermis and the brain stem. Patients and families who are willing to be studied by geneticists can contribute valuable information to the study of Joubert syndrome and other congenital abnormalities.

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Jerky muscle movements, poor muscle control, muscle weakness, and rapid eye movements are symptoms of Joubert syndrome which are fairly common, because the malformed or absent cerebellar vermis directly involves the muscular system. Other symptoms can include seizures, tongue disorders, cleft palates, extra fingers and toes, kidney or liver problems, vision issues, or severe developmental disabilities. As a general rule, the more severe the malformation, the more serious the symptoms will be for the patient, and the more rapid diagnosis will be.

Joubert syndrome cannot be cured, because it involves a congenital abnormality which cannot be corrected. However, it can be managed with the use of techniques to address various symptoms, such as surgery to correct cleft palates and physical therapy to develop muscle tone. Treatment will make the patient much more comfortable and improve quality of life, especially when supportive care is accompanied by parental advocacy throughout life.

Life expectancy for patients with Joubert syndrome is variable. More severe abnormalities can lead to sleep apnea and other conditions which can be life threatening, and children with severe Joubert syndrome may die early in life. Other people may go on to lead relatively normal lives of conventional lengths, especially if they are given attentive and proactive care. Parents should discuss life expectancy and options for sustaining life at the time of diagnosis.

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anon354120
Post 9

I carried a baby for five months with this syndrome. My husband and I decided to end the pregnancy as there were so many problems and baby was at high risk of death as soon as he was born. I miss him and pray he is with God.

Even as I type this, the tears are running down my cheeks. I feel so cheated. I have tried to conceive a baby for nearly four years and have had three miscarriages. I hope I can have a healthy baby soon. My prayers, love and best wishes to all.

anon322523
Post 8

My daughter was born with Joubert Syndrome and it varies in severity but there is no known way to predict severity based on brain malformations, etc.

I have recently taken over the scientific committee for the Joubert Syndrome and Related Disorders Foundation which currently has around 900 families from all over the globe. There is a website and Facebook page for this disorder.

aLFredo
Post 6

With Joubert syndrome (I spelled it Jubert syndrome for the longest time because of the way I pronounced it) I learned about it my graduate class, and we had learned about the variable life expectancy as explained in the article so it is great to hear stories like @shell4life's friend's child who no longer seems in danger.

Just as that child has lived into their twenties, I heard stories in my class of individuals with this syndrome living into their 30's even though when they were born Joubert syndrome their life expectancy was unknown.

Tomislav
Post 5

Whenever I hear syndrome, I think genetic, but I don't know if this is necessarily the case. Does anyone know if that is typically what is meant by syndrome?

wavy58
Post 4

The physical manifestation of Joubert syndrome can lessen with age. That’s what happened to my friend’s baby. She was born with a large forehead, high eyebrows, and droopy eyelids. Her mouth stayed open a lot, and her tongue rested on her lip for about the first two years of her life. Her ears were set low, and her pupils quivered quickly.

Her face took on a more normal appearance around the age of four. She didn’t always have her tongue out after that, but the pupil quivering continued. For the most part, she began to look like a regular child.

cloudel
Post 3

My cousin gave birth to fraternal twins, and both of them had Joubert syndrome. She was devastated, but she gave them all the love and support that special needs children require and let them have the best life possible.

She put them in speech therapy and physical therapy as soon as they were old enough to benefit from it. She stayed home all the time to care for them, and they were the joy of her life.

They only lived to be six and seven. They truly enriched her life and gave her a fresh perspective on innocence while they were here. She became pregnant two years later and gave birth to a healthy baby boy, and that helped her heal inside.

orangey03
Post 2

I found out just how rare Joubert syndrome is when my parents adopted a baby with the condition. They were told that only 200 individuals in the whole world are known to have it.

My adopted sister has two extra fingers and three extra toes. You can only tell that something is wrong with her when she starts to walk. She has terrible balance and has to have help going up and down stairs. It took until she was two years old for her to be able to sit upright without support. She will never be able to run.

shell4life
Post 1

I know a kid who was born with Joubert syndrome. They didn’t expect him to live more than seven years, but he overcame their expectations.

As a baby, his condition was the most severe. He would go through periods where his breathing resembled panting, and then it would just stop for over a minute. His poor mother worried herself sick watching him breathe that way and knowing that there was nothing she could do.

Today, his breathing has improved. He is 26 years old. He jerks around a lot, but he doesn’t seem to be in danger of sudden death anymore.

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