This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Cerebellar vermis hypoplasia||0001320|
Mental retardation, nonspecific
Mental-retardation[ more ]
Low or weak muscle tone
|30%-79% of people have these symptoms|
|Feeding difficulties in infancy||0008872|
Impaired gait[ more ]
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face[ more ]
Involuntary, rapid, rhythmic eye movements
|5%-29% of people have these symptoms|
|Abnormal form of the vertebral bodies||0003312|
|Abnormality of the hypothalamus-pituitary axis||0000864|
Enlarged colon lacking nerve cells
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Aplasia/Hypoplasia of the
Duplication of bones of the toes
|Highly arched eyebrow||
Broad, arched eyebrows
High, rounded eyebrows
Thick, flared eyebrows[ more ]
Too much cerebrospinal fluid in the brain
Low set ears
Lowset ears[ more ]
Cleft of the mouth
More grooves in brain
|Prominent nasal bridge||
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge[ more ]
Drooping upper eyelid
|Situs inversus totalis||
All organs on wrong side of body
Squint eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal saccadic eye movements||0000570|
|Abnormality of ocular smooth pursuit||0000617|
|Abnormality of the foot||
Abnormal feet morphology
Abnormality of the feet
Foot deformity[ more ]
|Agenesis of cerebellar vermis||0002335|
Aggressiveness[ more ]
Birth defect that causes a hole in the innermost layer at the back of the eye
|Dysgenesis of the cerebellar vermis||0002195|
|Elongated superior cerebellar peduncle||0011933|
|Enlarged fossa interpeduncularis||0100951|
Prominent eye folds[ more ]
Decreased muscle tone
Low muscle tone[ more ]
Spasms on one side of the face
More active than typical
|Hypoplasia of the brainstem||
Underdeveloped brainstem[ more ]
|Impaired smooth pursuit||0007772|
Increased size of skull
Large head circumference[ more ]
Abnormally large tongue
Increased size of tongue
Large tongue[ more ]
|Molar tooth sign on
|Neonatal breathing dysregulation||
Impaired breathing in newborn
|Optic nerve coloboma||0000588|
|Postaxial hand polydactyly||
Extra little finger
Extra pinkie finger
Extra pinky finger[ more ]
Protruding forehead[ more ]
Tongue sticking out of mouth[ more ]
Breakdown of light-sensitive cells in back of eye
Self mutilation[ more ]
|Triangular-shaped open mouth||0200096|
Additional features often identified in people with Joubert syndrome include an abnormal breathing pattern (alternating tachypnea and/or apnea) and abnormal eye movements.
The term “Joubert syndrome and related disorders” (JSRD) refers to those with Joubert syndrome who have additional findings such as retinal dystrophy, renal (kidney) disease, ocular colobomas, occipital encephalocele (protruding
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Joubert syndrome-related disorders (JSRD), cerebellar vermis malformations without the MTS (which include Dandy-Walker malformation), X-linked cerebellar hypoplasia, ataxia with oculomotor apraxia types 1 and 2 (AOA1, AOA2), congenital disorders of glycosylation (CDG), 3-C syndrome, pontocerebellar hypoplasias/atrophies, orofaciodigital syndromes II and III, and Meckel-Gruber syndrome (see these terms).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
NCATS Translational Approach Addresses COVID-19
May 21, 2020
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I suspect my 32 year old daughter may have Joubert syndrome. Do both my husband and I have to be carriers? Her father's relatives were French Canadians who lived near Quebec, and I have read that there is a large incidence from this area. See answer
I am trying for a baby with my partner. From a previous relationship my partner has a son with Joubert syndrome. Is there a risk I could have a baby with Joubert syndrome too? Should I get tested? Also, my partner has previously taken steroids. Do these cause risks of having a Joubert syndrome child? See answer
My grandson has Joubert syndrome, autism, and ADHD. Is autism related to Joubert syndrome? See answer