Joubert Syndrome – Pictures, Life Expectancy, Symptoms, Prognosis
Joubert Syndrome is one of the very rare disease which affects the brain functioning. It is referred as the brain malfunctioning and caused due to the underdevelopment of the Cerebellar Vermis. This is an area where the balancing and coordination are controlled in the brain. Due to the malfunctioning of the area the brain and the patient suffer many causalities. The most common example of the noncoordination is the inability of the movement for the voluntary muscle. Apart from this it may also cause physical deformities. The syndrome is very rare; however, the development of the disease may actually impact the patient by large and can cause huge problems in breathing and other necessary functions. It may also result in Mental Retardation of the patient. The syndrome is generally observed in the infants. It is classified under one of the genetic diseases. The cause of the syndrome is generally genetic mutation. The disease has a great chance of inheritance, and it has been noticed that the Joubert Syndrome is inherited from either of the parents.
Symptoms of Joubert Syndrome
The symptoms of the Joubert Syndrome vary from the mild to severely depending upon the criticality of the issue. However, majority of the infant patient have some common symptoms which indicate the presence of Joubert Syndrome in the baby. Considering the hazardousness and criticality of the disease it is important to observe and understand the symptoms of the disease.
As part of the physical appearance, infants clearly show some common features which are abnormal in nature. The head of the baby remains very large along with prominent and broad forehead. The nose also looks very broad and looks abnormal. Apart from it, the babies tend to remain mouth opened with stretching out tongue. All the symptoms indicate the presence of the Joubert Syndrome.
Hypotonia and Ataxia are very common in the Joubert Syndrome patient. These two refer to as the floppiness and unsteadiness in some extent. The delay in development and learning is another issue that is widely observed in the patients.
Eye movements are also very common among the infants. The poor vision and lack of eye movements very well indicate the Joubert Syndrome among infants. It has been observed that the infants suffering from the Joubert Syndrome generally cannot move their eyes to see any particular object. This is also called as the Oculomotor Apraxia.
Learning capabilities of the children become a huge problem. It has been observed that children cannot pick up language or speech due to lack of brain functioning. The children might also show very serious behavioral problems. Children might have epilepsy also due to Joubert Syndrome.
Joubert Syndrome does not impact only brain. It can also impact the kidney due to cyst problem that often leads to kidney infection.
Breathing problem is however the most common issue faced by the infants suffering from the Joubert Syndrome. The children having mild effect of Joubert Syndrome can improve with the progress of time but in severe cases they might succumb to the Joubert Syndrome.
Treatment of Joubert Syndrome
The treatment for the Joubert Syndrome is more of supportive than curing. The therapy to help the children overcome the brain underdevelopment may benefit them. However, it is dependent on the individual and may not be as effective for everyone. Consistent monitoring for the liver, kidney and breathing problem might help the infants to face the challenges for Joubert Syndrome. Monitoring of eye movements and vision treatment are also beneficial for some infants. However, there is no specified course of treatment for the Joubert Syndrome.
Prognosis of Joubert Syndrome
The prognosis of the infants for Joubert Syndrome entirely depends upon the severity of the syndrome. In some cases, Cerebellar Vemis remains partially developed, and the associated organ development of liver and kidney remain minimum. In such cases, the risk of the patient is less, and the patient might response to the therapy well and can cope up with a partially developed brain. This is also called the Mild Joubert Syndrome. However, absence of Cerebellar Vemis from brain or high association of other diseases may impact the infants in a drastic manner. This is normally referred as the Severe Joubert Syndrome, and the survival rate of the infants considerably reduce with that.
Life Expectancy of Joubert Syndrome
Life Expectancy of the infants depends upon the severity of the Joubert Syndrome. For Mild Joubert Syndrome, the children generally survive with supportive treatment and lives normal span of life. However, if the severity of the disease is very high than the survival rate decreases and the infant may die within a couple of years of birth due to multi organ failure or breathing problems. Normally, in severe cases the life expectancy for Joubert Syndrome is 2-3 years.
Pictures of Joubert Syndrome
Picture 1 – Joubert syndrome Face
Image 2- Joubert Syndrome CT scan photo (molar Teeth Sign)
Greetings,Doctor.
Ive recently discovered that my 2nd child have the rare Joubert Syndrome. I am curious to know if she is having a severe @ a mild one. How to differentiate? And I am also worried about her life expectancy. She is now 7 years old. Born on 02/03/2009. Please help me to get a clearer view of this situation.
My daughter is now 28 years old , she has been diagnosed with Joubert Syndrome in 1989 …. She is doing great , I take one day at a time , cause I feel a Dr cannot put a life expectancy on anyone . She does have a learning disabilities but I treat her as a normal person , she attends a learning center. Enjoy your baby girl no need to stress how long she has are how severe it is …. Just take one day at a time . may God bless you with the happiness my daughter has given me !!
Thank you for your comment, my child has it too, may I ask you how long was the breathing problem took ? we are in the NICU for 5 weeks now , with no improvement of the breathing issue. Thank you and God bless you.
Im seeing doctors next week to get prognosis for my daughter shes 28 years old and getting worse
I just found out my granddaughter has it 3-21-18, we just found out , I never heard of this before, so this gives us hope she was starting to have seizure and very bad headaches, so with the test we just found out.
My daughter has been diagnosed with Joubert Syndrome in 1989, I don’t put a life expectancy on her … I thank God everyday for the life he is giving me now with her ….We have some rough days and also awesome days , I take one day at a time !!!
Did your daughter have behavioral problems my granddaughter has this syndrome and she just flies off the handle can be mean
I have a child with Joubert syndrome. He is now 5 years old and i’m experiencing a lot of emotional behavior at this moment. It started and gradually it became worse. He wakes up in the morning and after a while he starts crying and i don’t no why. He is physically big and does great in preschool but i cannot seem to console him and he just cannot tell me what is wrong.
Are these emotions common with these children?
MY CHILD IS SUFFERING FROM MILD JOUBERT SYNDROME, HE WORKS LIKE NORMA CHILD, HE ATTEND THE SCHOOL, PLAY THE GAME. I AM DOING AYURVEDIC TREATMENT. HIS VISION IS 5/6
Sir pls help me my son also suffering from joubert syndrome which Ayurvedic medicine you use my no 9849319679
Hello, we have made a online dictionary with this syndrome. Take a look: http://sindromesmedicas.com.br/sindromes/visualizar/1437/jourbert-sindrome-de
After years of looking for a name for our children’s disability we are quite sure it is Joubert Syndrome.We have 2 of our 3 children that Dr’s feel have it. They’re ages are 29 and 25. Just finding this out a couple of weeks ago were thinking they must have a mild form, but do have many of the organs and other things associated with it. When they were born they were exposed to alot of therapy so we feel that was a great help in their progressing as they have. They are both very smart, although their physical health is more affected their mental status is quite high. Won’t change anything we’ve done now that we have a name for it will continue to treat them as we always have really no different than anyone else. Must have done something right.
My daughter is 42 years old, and this past year we found that she has the jgenes for Joubert syndrome. She has had two kidney transplants and thyroid cancer, oculomotor apraxia, learning disabilities, but she’s the most remarkable person that I have ever known. In the past few years she’s developed respiratory issues such as chronic episodes of severe cough/hiccup. Is there anyone who has a child around this age or who has developed similar symptoms please let me know – I have been all over and no one seems to be able to help her thank you
Hi, I have a 44 year old daughter that was recently genetically tested (Dec. 2017), and confirmed with Jouberts’. Because I monitor her closely, I’m aware of anything that appears not to be normal. She too has developed a constant cough. She stays extremely cold with severe bouts of constipation. Skin breakouts with acne and then it clears. She began bed wetting, and having to constantly urinate. She was born with retinitis pigmentosa, and is legally blind. She’s had many years of therapy because she couldn’t walk or talk as an adolescent. She’s passed out a few times, and has an extremely long history of behavioral issues, along with seizures. Mental health has recently been able to control her behavioral issues with medications. I am so thankful, after so many years of not knowing, to find out her true diagnosis. It’s been an extremely long and weary journey but we do have peace now, and true love as mother and daughter; I couldn’t be happier. However, I am worried about the symptoms she is having. My daughter is being monitored by Stanford university for this disorder.
My daughter is 42 years old, and this past year we found that she has the jgenes for Joubert syndrome. She has had two kidney transplants and thyroid cancer, oculomotor apraxia, learning disabilities, but she’s the most remarkable person that I have ever known. In the past few years she’s developed respiratory issues such as chronic episodes of severe cough/hiccup. Is there anyone who has a child around this age or who has developed similar symptoms please let me know – I have been all over and no one seems to be able to help her thank you
My daughter was diagnosed in 2008 and is now 21. She has been through 26 surgeries, has Strabismus, the large Molar Tooth sign but through much intervention and determination she, as can many, conquered a lot. Each day is in fact a gift yet it does not mean it is easy. I am a single mom that works full time and have recently developed an adult self directed program for her. At this point in life care still remains the hardest thing. I have been lucky to have amazing people as her I’ve on ones but it’s me 100% of the time she is not with her aid. We all find it hard st times, it’s okay but it doesn’t make it easy. Would not change her though, no speech is the hardest thing for her to deal with. I worry at this point about Life Expectancy but try not to dwell on it. Best of luck to everyone
A family member of mine was diagnosed with Joubert Syndrome a few years ago. As we have learned about this disease we realize that the shut down or complications the organs undergo are a result of the way the brain sends out signals if you will. In essence the stomach wasn’t processing food because there was a problem with the stomach, the stomach wasn’t functioning because the brain wasn’t giving the stomach the proper signals. This will be true for any organ that begins to not function properly. Keep track of their medical history as you might visit several different doctors over the years. The more we learn about the disease the more people become aware and educated. For now everyone is still learning the in and outs of JS. Each day is a blessing…each day is a gift. May all of your days be filled with love and laughter.
I have three of three children with Joubert Syndrome, they are 4, 6 and 8 years old. My daughter who is 6 is verbal and the other two are not. My wife and I feel our verbal child is going backward, she used to say the words very clear, she was playing with other children, paying attention, and looked smart. And now, she is on her own daydream, with a lot of sensory, she is playing with her hands, and cry or lough with with no reason.