---
description: Learn about Joubert's Syndrome and other medical names for Joubert's Syndrome. Support and discussion about Joubert Syndrome 
title: Joubert's syndrome
image: https://ogcdn.net/9d266224-4307-4b9d-b73f-00c1bdbd4759/v11/Joubert's%20syndrome/rgba(188%2C%2049%2C%20123%2C%201)/https%3A%2F%2Fopengraph.b-cdn.net%2Fproduction%2Fimages%2F2ed46913-f157-43c3-9418-19fea49af16c.png%3Ftoken%3DUl4O1QAtXTaMUjOfpBooUL-C8jajM-YwYFPrjCtr6ms%26height%3D1080%26width%3D1080%26expires%3D33315971423/og.png
---

[Skip to main content](https://patient.info/)

* [Home](https://patient.info/doctor)
* [Clinical topics](https://patient.info/health)
* [Tools and resources](https://patient.info/medical-calculators)
* [Learning](https://patient.info/doctor/leadership-for-general-practice)
* [Insights](https://patient.info)
* [Jobs](https://jobs.patient.info/)
* [Patient information](https://patient.info/health)

* [Professional articlesEvidence-based professional reference pages authored by our clinical team for the use of medical professionals.](https://patient.info)

  * ###### Professional articles  
  [View all professional articles A-Z](https://patient.info/doctor/articles#a-z-a)[Browse by clinical topic](https://patient.info/doctor/articles)  
  [Anaesthetics and pain control](https://patient.info/doctor/anaesthetics)[Cardiovascular disease](https://patient.info/doctor/cardiovascular-disease)[Congenital and inherited disorders](https://patient.info/doctor/congenital-disorders)[Dermatology](https://patient.info/doctor/dermatology)[Drug therapy](https://patient.info/doctor/drug-therapy)[Ear, nose and throat](https://patient.info/doctor/ear-nose-throat)[Emergency medicine and trauma](https://patient.info/doctor/emergency-medicine)[Endocrine disorders](https://patient.info/doctor/endocrine-disorders)[Fertility and reproduction](https://patient.info/doctor/fertility)[Gastroenterology](https://patient.info/doctor/gastroenterology)[General surgery](https://patient.info/doctor/general-surgery)[Gynaecology](https://patient.info/doctor/gynaecology)[Haematology](https://patient.info/doctor/haematology)[History and examination](https://patient.info/doctor/history-examination)[Infectious disease](https://patient.info/doctor/infectious-disease)[Information governance and security](https://patient.info/doctor/information-governance-and-security)[Investigations](https://patient.info/doctor/investigations)[Mental health](https://patient.info/doctor/mental-health)[Mouth and dental disorders](https://patient.info/doctor/mouth-dental-disorders)[Multisystem disease](https://patient.info/doctor/multisystem-diseases)[Neurology](https://patient.info/doctor/neurology)[Nutrition](https://patient.info/doctor/nutrition)[Obstetrics](https://patient.info/doctor/obstetrics)[Occupational illness](https://patient.info/doctor/occupational-illness)[Oncology](https://patient.info/doctor/oncology)[Ophthalmology](https://patient.info/doctor/ophthalmology)[Orthopaedics and sports medicine](https://patient.info/doctor/orthopaedics)[Paediatrics](https://patient.info/doctor/paediatrics)[Palliative and terminal care](https://patient.info/doctor/palliative-terminal-care)[Pathological processes](https://patient.info/doctor/pathological-processes)[Primary care](https://patient.info/doctor/primary-care)[Public health medicine](https://patient.info/doctor/public-health-medicine)[Renal disorders](https://patient.info/doctor/renal-disorders)[Respiratory medicine](https://patient.info/doctor/respiratory-medicine)[Rheumatology](https://patient.info/doctor/rheumatology)[Screening and prevention](https://patient.info/doctor/screening-prevention)[Social care](https://patient.info/doctor/social-care)[Therapies](https://patient.info/doctor/therapies)[Thinking about medicine](https://patient.info/doctor/thinking-about-medicine)[Toxicology and iatrogenic disorders](https://patient.info/doctor/toxicology)[Travel related disease](https://patient.info/doctor/travel-related-disease)[Urology](https://patient.info/doctor/urology)  
[Medicine informationInformation and fact sheets for patients and professionals. Find out side effects, medicine names, dosages and uses.](https://patient.info)

  * ###### Medicine information  
  [All medicines A-Z](https://patient.info/medicine)[Drug interaction checker](https://patient.info/treatment-medication/interaction-checker)  
  [Allergy medicines](https://patient.info/allergy-medicines)[Analgesics and pain medication](https://patient.info/analgesics-and-pain-medication)[Anti-inflammatory medicines](https://patient.info/anti-inflammatory-medicines)[Breathing treatment and respiratory care](https://patient.info/breathing-treatment-and-respiratory-care)[Cancer treatment and drugs](https://patient.info/cancer-treatment-and-drugs)[Contraceptive medicines](https://patient.info/contraceptive-medicines)[Diabetes medicines](https://patient.info/diabetes-medicines)[Medicine interactions](https://patient.info/medication-interactions)[ENT and mouth care](https://patient.info/ent-and-mouth-care)[Eye care medicine](https://patient.info/eye-care-medicine)[Gastrointestinal treatment](https://patient.info/gastrointestinal-treatment)[Genitourinary medicine](https://patient.info/genito-urinary-medicine)[Heart disease treatment and prevention](https://patient.info/heart-disease-treatment-and-prevention)[Hormonal imbalance treatment](https://patient.info/hormonal-imbalance-treatment)[Hormone deficiency treatment](https://patient.info/hormone-deficiency-treatment)[Immunosuppressive drugs](https://patient.info/immunosuppressive-drugs)[Infection treatment medicine](https://patient.info/infection-treatment-medicine)[Kidney conditions treatments](https://patient.info/treatment-for-kidneys)[Muscle, bone and joint pain treatment](https://patient.info/muscle-bone-and-joint-pain-treatment)[Nausea medicine and vomiting treatment](https://patient.info/nausea-medicine-and-vomiting-treatment)[Nervous system drugs](https://patient.info/nervous-system-drugs)[Reproductive health](https://patient.info/reproductive-health)[Skin conditions treatments](https://patient.info/treatments-for-skin-conditions)[Substance abuse treatment](https://patient.info/substance-abuse-treatment)[Vaccines and immunisation](https://patient.info/vaccines-and-immunisation)[Vitamin and mineral supplements](https://patient.info/vitamin-and-mineral-supplements)  
[Travel adviceFind country-specific travel health advice.](https://patient.info)

  * ###### Featured countries  
  [Countries A-Z](https://patient.info/travel-country)  
  [Australia](https://patient.info/travel-and-vaccinations/australia)[Brazil](https://patient.info/travel-and-vaccinations/brazil)[Canada](https://patient.info/travel-and-vaccinations/canada)[Egypt](https://patient.info/travel-and-vaccinations/Egypt)[India](https://patient.info/travel-and-vaccinations/india)[Japan](https://patient.info/travel-and-vaccinations/japan)[Spain](https://patient.info/travel-and-vaccinations/spain)
* [Medical tools and resourcesClinical tools for medical professional use.](https://patient.info)

  * ###### Medical tools and resources  
  [All medical tools and resources](https://patient.info/medical-calculators)[All clinical calculators](https://patient.info/doctor/professional-tools-and-resources)  
  [BMI calculator](https://patient.info/healthy-living/calculate-bmi)[Generalised anxiety disorder assessment](https://patient.info/doctor/mental-health/gad-7)[Patient health questionnaire](https://patient.info/doctor/mental-health/phq-9)[Pregnancy due date calculator](https://patient.info/doctor/pregnancy-due-date-calculator)[FeverPAIN score](https://patient.info/doctor/infectious-disease/feverpain)[Centor score](https://patient.info/doctor/infectious-disease/centor)[Wells’ criteria for deep vein thrombosis (DVT)](https://patient.info/doctor/cardiovascular-disease/wells-dvt-score)[Wells’ criteria for pulmonary embolism (PE)](https://patient.info/doctor/cardiovascular-disease/wells-pe-score)[CHA₂DS₂-VASc score](https://patient.info/doctor/cardiovascular-disease/chads-vasc-score)[QRISK3 cardiovascular risk calculator](https://patient.info/doctor/cardiovascular-disease/qrisk3-cardiovascular-risk-calculator)  
  ###### Patient tools and resources  
  [Symptom checker](https://patient.info/symptom-checker)[AskPatient Ai](https://patient.info/ask/patient)[Personalised digital habit coaching](https://patient.info/features/healthy-living/building-healthier-habits)[Generalised anxiety disorder assessment](https://patient.info/doctor/mental-health/gad-7)[Patient health questionnaire](https://patient.info/doctor/mental-health/phq-9)[Pregnancy due date calculator](https://patient.info/pregnancy/pregnancy-due-date-calculator)[Ovulation calculator](https://patient.info/pregnancy/ovulation-calculator)[Sleep debt calculator](https://patient.info/healthy-living/sleep-debt-calculator)[Calorie calculator](https://patient.info/healthy-living/calorie-calculator)[BMR (Basal Metabolic Rate) calculator](https://patient.info/healthy-living/basal-metabolic-rate-calculator)[Glucose Ketone Index (GKI) calculator](https://patient.info/healthy-living/glucose-ketone-index-gki-calculator)[Epworth sleepiness scale](https://patient.info/signs-symptoms/tiredness-fatigue/epworth-sleepiness-scale)[Asthma control test (ACT)](https://patient.info/chest-lungs/asthma-control-test)[Benefits checker](https://patient.info/general-health/benefits-calculator)[PIP helper](https://patient.info/general-health/check-your-personal-independence-payment-pip-eligibility)[Patient.info app](https://patient.info/app)[Pollen map](https://patient.info/features/allergies-blood-immune/pollen-map)[ADHD Self-assesment tool](https://patient.info/brain-nerves/adhd-self-assessment-tool)  
[Health and wellness video libraryDiscover our library of trusted health videos.](https://patient.info)

  * ###### Health and wellness video library  
  [All health and wellness videos](https://patient.info/video-library)[Visit our YouTube channel](https://www.youtube.com/patient)  
  [Bones, joints and muscles](https://patient.info/video-library#bones,jointsandmuscles)[Cancer](https://patient.info/video-library#cancer)[Diabetes](https://patient.info/video-library#diabetes)[General health and lifestyle](https://patient.info/video-library#generalhealthandlifestyle)[Infections](https://patient.info/video-library#infections)[Mental health](https://patient.info/video-library#mentalhealth)[Other conditions](https://patient.info/video-library#otherconditions)[Pregnancy and miscarriage](https://patient.info/video-library#pregnancyandmiscarriage)[Sexual health and contraception](https://patient.info/video-library#sexualhealthandcontraception)[Women's health](https://patient.info/video-library#women'shealth)[Explore more videos on YouTube](https://www.youtube.com/patient)
* [Leadership for General PracticeCombining short video insights with deeper learning guides, this academy fits around the realities of busy practice life - giving you the tools to lead with clarity, empathy, and impact.](https://patient.info)

  * ###### Leadership for General Practice  
  [Browse the course](https://patient.info/doctor/leadership-for-general-practice)  
  [Managing & Coaching](https://patient.info/doctor/leadership-for-general-practice/developing-coaching-skills)[Managing Change & The Practice](https://patient.info/doctor/leadership-for-general-practice/developing-coaching-skills)[Managing Difficult Conversations](https://patient.info/doctor/leadership-for-general-practice/developing-coaching-skills)[Managing Others](https://patient.info/doctor/leadership-for-general-practice/developing-coaching-skills)[Managing Yourself](https://patient.info/doctor/leadership-for-general-practice/developing-coaching-skills)
* [National Diabetes AuditTurn data into live benchmarks, evidence-based interventions and shareable action plans.](https://patient.info)

  * ###### National Diabetes Audit  
  [Dashboard](https://insights.patient.info/dashboard)  
  [Benchmarking](https://insights.patient.info/benchmarking)[Reports](https://insights.patient.info/reports)[Indicator library](https://insights.patient.info/indicators)[Interventions library](https://insights.patient.info/interventions)[Organisations](https://insights.patient.info/pcns)
* [Health topicsTrusted patient information leaflets with clear, clinically reviewed advice on conditions, symptoms and treatments.](https://patient.info)

  * ###### Health topics  
  [Conditions A-Z](https://patient.info/health#a-z-a)[All health topics](https://patient.info/health)  
  [Allergies, blood and immune system](https://patient.info/allergies-blood-immune)[Bones, joints and muscles](https://patient.info/bones-joints-muscles)[Brain and nerves](https://patient.info/brain-nerves)[Cancer](https://patient.info/cancer)[Chest and lungs](https://patient.info/chest-lungs)[Children's health](https://patient.info/childrens-health)[Diabetes](https://patient.info/diabetes)[Digestive health](https://patient.info/digestive-health)[Ear, nose and throat](https://patient.info/ear-nose-throat)[Eye health](https://patient.info/eye-care)[Foot care](https://patient.info/foot-care)[General health](https://patient.info/general-health-and-lifestyle)[Healthy living](https://patient.info/healthy-living)[Heart health and blood vessels](https://patient.info/heart-health)[Hormones](https://patient.info/hormones)[Infections](https://patient.info/infections)[Kidney and urinary tract](https://patient.info/kidney-urinary-tract)[Men's health](https://patient.info/mens-health)[Mental health](https://patient.info/mental-health)[Oral and dental care](https://patient.info/oral-dental-care)[Pregnancy](https://patient.info/pregnancy)[Senior health](https://patient.info/senior-health)[Sexual health](https://patient.info/sexual-health)[Signs and symptoms](https://patient.info/signs-symptoms)[Skin, nail and hair health](https://patient.info/skin-conditions)[Surgery and procedures](https://patient.info/surgery-procedures)[Tests and investigations](https://patient.info/about-tests-and-investigations)[Travel and vaccinations](https://patient.info/travel-and-vaccinations)[Treatment and medication](https://patient.info/treatment-medication)[Women's health](https://patient.info/womens-health)  
[Healthy livingExpert features, lifestyle guidance and real-life stories designed to support your everyday health and wellbeing.](https://patient.info)

  * ###### Healthy living  
  [Latest features](https://patient.info/news-and-features)[Browse all topics](https://patient.info/features)  
  [Health news](https://patient.info/health-news)[Hay fever and allergies](https://patient.info/hay-fever-and-allergies)[Cold and flu season](https://patient.info/cold-and-flu-season)[Health research](https://patient.info/health-research)[Weight loss management](https://patient.info/weight-loss-management)[Student health](https://patient.info/student-health-and-wellbeing)[Allergies, blood and immune system](https://patient.info/features/allergies-blood-immune)[Bones, joints and muscles](https://patient.info/features/bones-joints-muscles)[Brain and nerves](https://patient.info/features/brain-nerves)[Cancer](https://patient.info/features/cancer)[Chest and lungs](https://patient.info/features/chest-lungs)[Children's health](https://patient.info/features/childrens-health)[COVID-19](https://patient.info/features/covid)[Diabetes](https://patient.info/features/diabetes)[Diet and nutrition](https://patient.info/features/diet-and-nutrition)[Digestive health](https://patient.info/features/digestive-health)[Ear, nose and throat](https://patient.info/features/ear-nose-throat)[Eye health](https://patient.info/features/eye-care)[Foot care](https://patient.info/features/foot-care)[General health](https://patient.info/features/general-health-and-lifestyle)[Healthy living](https://patient.info/features/healthy-living)[Heart health and blood vessels](https://patient.info/features/heart-health)[Hormones](https://patient.info/features/hormones)[Infections](https://patient.info/features/infections)[Kidney and urinary tract](https://patient.info/features/kidney-urinary-tract)[Men's health](https://patient.info/features/mens-health)[Mental health](https://patient.info/features/mental-health)[Oral and dental care](https://patient.info/features/oral-dental-care)[Pregnancy](https://patient.info/features/pregnancy)[Senior health](https://patient.info/features/senior-health)[Sexual health](https://patient.info/features/sexual-health)[Signs and symptoms](https://patient.info/features/signs-symptoms)[Skin, nail and hair health](https://patient.info/features/skin-conditions)[Tests and investigations](https://patient.info/features/about-tests-and-investigations)[Travel and vaccinations](https://patient.info/features/travel-and-vaccinations)[Treatment and medication](https://patient.info/features/treatment-medication)[Women's health](https://patient.info/features/womens-health)  
[Tests and investigationsInformation and guidance about tests and an easy, fast and accurate symptom checker.](https://patient.info)

  * ###### Tests and investigations  
  [Symptom checker](https://patient.info/symptom-checker)[AskPatient Ai](https://patient.info/ask/patient)  
  [About tests and investigations](https://patient.info/about-tests-and-investigations)[Biopsy](https://patient.info/about-tests-and-investigations#biopsy)[Blood tests](https://patient.info/about-tests-and-investigations#bloodtests)[Endoscopy](https://patient.info/about-tests-and-investigations#endoscopy)[General tests and investigations](https://patient.info/about-tests-and-investigations#generaltestsandinvestigations)[Heart tests](https://patient.info/about-tests-and-investigations#hearttests)[Imaging](https://patient.info/about-tests-and-investigations#imaging)[Screening tests](https://patient.info/about-tests-and-investigations#screeningtests)[Urine and bladder tests](https://patient.info/about-tests-and-investigations#urineandbladdertests)  
[Patient communitiesBrowse discussions, ask questions, and share experiences across hundreds of health topics – all in a safe, supportive space.](https://patient.info)

  * ###### Patient communities  
  [Log in](https://community.patient.info/login)[Sign up](https://community.patient.info/signup)[Browse all patient communities](https://community.patient.info/)  
  [Allergies, blood and immune system](https://community.patient.info/c/allergies-blood-and-immune-system/4)[Bones, joints and muscles](https://community.patient.info/c/bones-joints-and-muscles/2)[Brain and nerves](https://community.patient.info/c/brain-and-nerves/6)[Cancer](https://community.patient.info/c/cancer/7)[Chest and lungs](https://community.patient.info/c/chest-and-lungs/8)[Children's health](https://community.patient.info/c/childrens-health/9)[Cosmetic surgery](https://community.patient.info/c/cosmetic-surgery/40)[Diabetes](https://community.patient.info/c/diabetes/11)[Digestive health](https://community.patient.info/c/digestive-health/16)[Ears, nose and throat](https://community.patient.info/c/ears-nose-and-throat/12)[Eye care](https://community.patient.info/c/eye-care/13)[Foot care](https://community.patient.info/c/foot-care/41)[General health and lifestyle](https://community.patient.info/c/general-health-and-lifestyle/43)[Heart health and blood vessels](https://community.patient.info/c/heart-health-and-blood-vessels/18)[Hormones](https://community.patient.info/c/hormones/45)[Infections](https://community.patient.info/c/infections/20)[Kidney and urinary tract](https://community.patient.info/c/kidney-and-urinary-tract/15)[Men's health](https://community.patient.info/c/mens-health/24)[Mental health](https://community.patient.info/c/mental-health/25)[Oral and dental care](https://community.patient.info/c/oral-and-dental-care/44)[Pregnancy](https://community.patient.info/c/pregnancy/27)[Senior health](https://community.patient.info/c/senior-health/28)[Sexual health](https://community.patient.info/c/sexual-health/10)[Signs and symptoms](https://community.patient.info/c/signs-and-symptoms/30)[Skin, nail and hair health](https://community.patient.info/c/skin-nail-and-hair-health/29)[Tests and investigations](https://community.patient.info/c/tests-and-investigations/32)[Travel and vaccinations](https://community.patient.info/c/travel-and-vaccinations/39)[Treatment and medication](https://community.patient.info/c/treatment-and-medication/19)[Women's health](https://community.patient.info/c/womens-health/33)[Other conditions](https://community.patient.info/c/other-conditions/34)

* [Professional articles](https://patient.info/doctor/articles)
* [Neurology](https://patient.info/doctor/neurology)
* Joubert's syndrome

# Joubert's syndrome

Peer reviewed by [ Patient clinician team](https://patient.info/authors/clinical)Last updated by [Dr Hayley Willacy, FRCGP ](https://patient.info/authors/dr-hayley-willacy)Last updated 18 Mar 2011

Meets Patient’s [editorial guidelines](https://patient.info/editorial-policy)Est. **2 min** reading time

* Download  
[Download](https://pdf.patient.info/?url=https%3A%2F%2Fpatient.info%2Fdoctor%2Fneurology%2Fjoubert-syndrome.htm)  
Article PDF has been downloaded
* Share  
#### Share

  * [Share via email](mailto:?subject=Patient%20-%20Jouberts%20syndrome&body=https%3A%2F%2Fpatient.info%2Fdoctor%2Fneurology%2Fjoubert-syndrome.htm)
  * [Share via Facebook](https://www.facebook.com/sharer/sharer.php?u=https%3A%2F%2Fpatient.info%2Fdoctor%2Fneurology%2Fjoubert-syndrome.htm)
  * [Share via LinkedIn](https://www.linkedin.com/sharing/share-offsite/?url=https%3A%2F%2Fpatient.info%2Fdoctor%2Fneurology%2Fjoubert-syndrome.htm)
  * [Share via X](https://x.com/intent/post?text=Patient%20-%20Jouberts%20syndrome&url=https%3A%2F%2Fpatient.info%2Fdoctor%2Fneurology%2Fjoubert-syndrome.htm)
  * [Share via WhatsApp](https://api.whatsapp.com/send?text=Patient%20-%20Jouberts%20syndrome%20https%3A%2F%2Fpatient.info%2Fdoctor%2Fneurology%2Fjoubert-syndrome.htm)
  * [Copy link](#copy)  
Article link copied to clipboard
* Language  
#### Language

  * [🇬🇧 English](https://patient.info/doctor/neurology/joubert-syndrome.htm)
  * [🇩🇪 Deutsch](https://de.patient.info/doctor/neurology/joubert-syndrome.htm)
  * [🇪🇸 Español](https://es.patient.info/doctor/neurology/joubert-syndrome.htm)
  * [🇫🇷 Français](https://fr.patient.info/doctor/neurology/joubert-syndrome.htm)
  * [🇮🇹 Italiano](https://it.patient.info/doctor/neurology/joubert-syndrome.htm)
  * [🇵🇹 Português](https://pt.patient.info/doctor/neurology/joubert-syndrome.htm)
  * [🇮🇳 हिन्दी](https://hi.patient.info/doctor/neurology/joubert-syndrome.htm)
  * [🇮🇱 עברית](https://he.patient.info/doctor/neurology/joubert-syndrome.htm)
  * [🇸🇦 عربي](https://ar.patient.info/doctor/neurology/joubert-syndrome.htm)
  * [🇸🇪 Svenska](https://sv.patient.info/doctor/neurology/joubert-syndrome.htm)
* Discussion
* Audio Version
* Add to preferred sources on Google

###### This page has been archived.

It has not been reviewed recently and is not up to date. External links and references may no longer work.

Medical Professionals

Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK and European Guidelines. You may find one of our [health articles](https://patient.info/health) more useful.

_Synonyms: Joubert-Boltshauser syndrome, cerebelloparenchymal disorder IV, familial cerebellar vermis agenesis, cerebello-oculo-renal syndrome._[1](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-1 "Joubert M, Eisenring JJ, Robb JP, et al; Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.; Neurology. 1969 Sep;19(9):813-25.")   
  
 Joubert's syndrome is a rare autosomal recessive condition characterised by partial or complete absence of the cerebellar vermis, leading to neonatal breathing abnormalities, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap.[2](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-2 "Valente EM, Brancati F, Dallapiccola B; Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 2008 Jan-Feb;51(1):1-23. Epub 2007 Nov 23.")

## Epidemiology

The incidence of Joubert's syndrome has been estimated to range between 1/80,000 and 1/100,000 live births, although this may be an underestimate.[3](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-3 "Brancati F, Dallapiccola B, Valente EM; Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20.")

## Genetics

Joubert's syndrome is transmitted as an autosomal recessive trait (genetic heterogeneity - chromosome 9 is a possible candidate[4](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-4 "Joubert Syndrome, Online Mendelian Inheritance in Man (OMIM)")). Mutations in five genes have been identified, including AHI1, NPHP1 and RPGRIP1L.[5](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-5 "Louie CM, Gleeson JG; Genetic basis of Joubert syndrome and related disorders of cerebellar development.; Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R235-42.")[6](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-6 "Harris PC; Genetic complexity in Joubert syndrome and related disorders. Kidney Int. 2007 Dec;72(12):1421-3.")  
  
 Recurrence risk is 25% in most families, although X-linked inheritance should also be considered.

## Presentation

Onset is in early infancy with abnormally rapid breathing, jerky eye movements, mental retardation, hemifacial spasms, seizures and ataxia:

* Eyes: abnormal eye movements, chorioretinal coloboma, ptosis, and retinal dysplasia.
* Mouth: tongue tumours and protrusion.
* Hand and foot: polydactyly.
* Neurological: hypotonia, hypoplasia or aplasia of the cerebellar vermis, occasional occipital meningo-encephalocele, hemifacial spasms and ataxia.
* Gastrointestinal: duodenal atresia or fibrosis.
* Renal: cystic kidneys.
* Mental and motor retardation.
* Behavioural problems: self-mutilation.
* Neonatal apnoea followed by episodic hyperpnoea which may improve and subsequently disappear.

## Investigations

* The diagnosis of Joubert's syndrome is confirmed with MRI, which shows classic neuroradiological finding of a complex midbrain-hindbrain malformation known as the 'molar tooth sign' (MTS), originating from the association of cerebellar vermis hypoplasia, horizontally-oriented and thickened superior cerebellar peduncles and a deepened interpeduncular fossa ('molar tooth sign').[2](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-2 "Valente EM, Brancati F, Dallapiccola B; Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 2008 Jan-Feb;51(1):1-23. Epub 2007 Nov 23.")[7](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-7 "Merritt L; Recognition of the clinical signs and symptoms of Joubert syndrome.; Adv Neonatal Care. 2003 Aug;3(4):178-86; quiz 187-8.")
* Detection of the MTS should be followed by a diagnostic protocol to assess multi-organ involvement.
* MRI findings also include dilated cisterna magna, occipital meningo-encephalocele, [Dandy-Walker malformation](https://patient.info/doctor/history-examination/cerebellar-disorders), hypoplasia of the corpus callosum, retrobulbar cystic mass.
* Abdominal ultrasound may show cystic kidneys.
* Genetic testing is not currently available but the physical abnormalities may be detected at antenatal ultrasound. A fetal MRI scan at between 20 and 22 weeks of gestation has been shown to be an effective method of antenatal diagnosis.[8](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-8 "Doherty D, Glass IA, Siebert JR, et al; Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.; Prenat Diagn. 2005 Jun;25(6):442-7.")

## Differential diagnosis

Other autosomal recessive ataxias, eg [Friedreich's ataxia](https://patient.info/doctor/history-examination/cerebellar-disorders), [ataxia-telangiectasia](https://patient.info/doctor).[9](https://patient.info/doctor/neurology/joubert-syndrome.htm#ref-9 "Espinos-Armero C, Gonzalez-Cabo P, Palau-Martinez F; [Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology]; Rev Neurol. 2005 Oct 1-15;41(7):409-22.")

## Associated disorders

Leber's amaurosis (blindness with normal optic fundi and brain and kidney abnormalities) may be associated.

## Management

* Treatment is symptomatic and supportive and will include physiotherapy, and occupational and speech therapy.
* The parents will need a great deal of support.

## Prognosis

* This depends on the degree of malformation or agenesis of the cerebellar vermis.
* Some will have a mild form with mild physical disability and good mental development.
* In others, there may be severe physical disability, moderate mental retardation and death in infancy or early childhood.

#### Exclusive updates for healthcare professionals

Stay informed with the latest clinical updates, professional insights, and evidence-based guidance. The Patient Pro newsletter curates essential content for healthcare professionals—delivered straight to your inbox.

Please enter a valid email address

Subscribe

By subscribing you accept our [Privacy Policy](https://patient.info/privacy-policy). You can unsubscribe at any time. We never sell your data.

###  Further reading and references 

* [Parisi MA](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list%5Fuids=19876931); Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40.
1. [Joubert M, Eisenring JJ, Robb JP, et al](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list%5Fuids=5816874); Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.; Neurology. 1969 Sep;19(9):813-25.
2. [Valente EM, Brancati F, Dallapiccola B](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list%5Fuids=18164675); Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 2008 Jan-Feb;51(1):1-23\. Epub 2007 Nov 23.
3. [Brancati F, Dallapiccola B, Valente EM](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list%5Fuids=20615230); Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20.
4. Joubert Syndrome, Online Mendelian Inheritance in Man (OMIM)
5. [Louie CM, Gleeson JG](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list%5Fuids=16244321); Genetic basis of Joubert syndrome and related disorders of cerebellar development.; Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R235-42.
6. [Harris PC](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list%5Fuids=18046420); Genetic complexity in Joubert syndrome and related disorders. Kidney Int. 2007 Dec;72(12):1421-3.
7. [Merritt L](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list%5Fuids=14502525); Recognition of the clinical signs and symptoms of Joubert syndrome.; Adv Neonatal Care. 2003 Aug;3(4):178-86; quiz 187-8.
8. [Doherty D, Glass IA, Siebert JR, et al](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list%5Fuids=15966043); Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.; Prenat Diagn. 2005 Jun;25(6):442-7.
9. [Espinos-Armero C, Gonzalez-Cabo P, Palau-Martinez F](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list%5Fuids=16193447); \[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology\]; Rev Neurol. 2005 Oct 1-15;41(7):409-22.

### About the author[View full bio](https://patient.info/authors/dr-hayley-willacy)

![Author image](https://images.ctfassets.net/xxv4b9mbhlgd/au_img_9ae78124-a78f-4c03-b7b9-2a4f553aa0aa/7248e606fae7eef0a0c79291cae41513/users-Hayley.jpg)

#### Dr Hayley Willacy, FRCGP 

##### General Practitioner, Medical Author

MBChB (1992), DRCOG, DFFP, MRCOG (Part 1) MRCGP (2007), DFSRH (2013), MSc - medical education (2020)

Dr Hayley Willacy was an NHS GP working in northwest England, who retired from clinical practice in 2022 after 30 years. 

### About the reviewer[View full bio](https://patient.info/authors/clinical)

![Author image](https://patient.info/images/default_image.png)

#### Patient clinician team

The Patient.info Clinical Team creates and reviews our health content to ensure it is accurate, evidence-based, and guided by trusted NHS and NICE standards.

## Article history

The information on this page is written and peer reviewed by qualified clinicians. 

Article also available in [English](https://patient.info/doctor/neurology/joubert-syndrome.htm), [German](https://de.patient.info/doctor/neurology/joubert-syndrome.htm), [Spanish](https://es.patient.info/doctor/neurology/joubert-syndrome.htm), [French](https://fr.patient.info/doctor/neurology/joubert-syndrome.htm), [Italian](https://it.patient.info/doctor/neurology/joubert-syndrome.htm), [Portuguese](https://pt.patient.info/doctor/neurology/joubert-syndrome.htm), [Hindi](https://hi.patient.info/doctor/neurology/joubert-syndrome.htm), [Hebrew](https://he.patient.info/doctor/neurology/joubert-syndrome.htm), [Arabic](https://ar.patient.info/doctor/neurology/joubert-syndrome.htm), and [Swedish](https://sv.patient.info/doctor/neurology/joubert-syndrome.htm).

* ###### 18 Mar 2011 | Latest version  
Last updated by  
[Dr Hayley Willacy, FRCGP ](https://patient.info/authors/dr-hayley-willacy)  
Peer reviewed by  
[Patient clinician team](https://patient.info/authors/clinical)

![flu eligibility checker](https://images.ctfassets.net/xxv4b9mbhlgd/516CIztvBjVGhOP5VEjXMg/16ad4598656bd8f7b381cfff21b8f6dc/Untitled__1090_x_888_px_.png)

#### Ask, share, connect.

Browse discussions, ask questions, and share experiences across hundreds of health topics.

Browse forums

![symptom checker](https://images.ctfassets.net/xxv4b9mbhlgd/1Dz6L58ffaUwLTR9rak3zv/36beafd6fb6750c8ff21fe2a4fc4d86a/Mobile.png)

#### Feeling unwell?

Assess your symptoms online for free

Check symptoms

## More in neurology

* [Aortic dissection](https://patient.info/doctor/neurology/aortic-dissection)
* [Cerebrovascular events](https://patient.info/doctor/neurology/cerebrovascular-events)
* [Diplopia and III, IV and VI cranial nerve lesions](https://patient.info/doctor/history-examination/diplopia-and-iii-iv-and-vi-cranial-nerve-lesions)
* [Frontotemporal dementia](https://patient.info/doctor/mental-health/frontotemporal-dementia)
* [Moebius syndrome](https://patient.info/doctor/neurology/moebius-syndrome.htm)
* [Myasthenia gravis](https://patient.info/doctor/neurology/myasthenia-gravis-pro)
* [Myopathies](https://patient.info/doctor/paediatrics/myopathies)
* [Neurological examination of the lower limbs](https://patient.info/doctor/history-examination/neurological-examination-of-the-lower-limbs)
* [Neurological examination of the upper limbs](https://patient.info/doctor/history-examination/neurological-examination-of-the-upper-limbs)
* [PANDAS](https://patient.info/doctor/paediatrics/pandas-paediatric-autoimmune-neuropsychiatric-disorder-associated-with-streptococcal-infection)
* [Pelizaeus-Merzbacher disease](https://patient.info/doctor/neurology/pelizaeus-merzbacher-disease.htm)
* [Porphyrias](https://patient.info/doctor/paediatrics/porphyrias)
* [Posterior leukoencephalopathy syndrome](https://patient.info/doctor/neurology/posterior-leukoencephalopathy-syndrome)
* [Spinal disc problems](https://patient.info/doctor/neurology/spinal-disc-problems-including-red-flag-signs)
* [Subarachnoid haemorrhage](https://patient.info/doctor/neurology/subarachnoid-haemorrhage-pro)
* [Subdural haematoma](https://patient.info/doctor/neurology/subdural-haematoma-pro)
* [Sydenham's chorea](https://patient.info/doctor/paediatrics/sydenhams-chorea)
* [Syphilis](https://patient.info/doctor/mental-health/syphilis-pro)
* [Syringomyelia and syringobulbia](https://patient.info/doctor/neurology/syringomyelia-and-syringobulbia)
* [Urinary incontinence](https://patient.info/doctor/history-examination/urinary-incontinence-pro)

[View more in neurology](https://patient.info/doctor/neurology)

```json
{"@context":"https://schema.org","@type":"MedicalWebPage","@id":"https://patient.info/doctor/neurology/joubert-syndrome.htm","name":"Joubert's syndrome","description":"Learn about Joubert's Syndrome and other medical names for Joubert's Syndrome. Support and discussion about Joubert Syndrome ","url":"https://patient.info/doctor/neurology/joubert-syndrome.htm","about":"","publisher":{"@type":"Organization","name":"Patient.info","logo":{"@type":"ImageObject","url":"https://patient.info/images/logo_patient.png"}},"dateCreated":null,"dateModified":"2011-03-18T00:00:00.000Z","datePublished":null,"breadcrumb":{"@context":"https://schema.org","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@type":"WebPage","@id":"https://patient.info/doctor/articles","name":"Professional articles"}},{"@type":"ListItem","position":2,"item":{"@type":"WebPage","@id":"https://patient.info/doctor/neurology","name":"Neurology"}},{"@type":"ListItem","position":3,"item":{"@type":"WebPage","@id":"","name":"Joubert's syndrome"}}],"itemListOrder":"ItemListOrderAscending","numberOfItems":3},"lastReviewed":"2011-03-18T00:00:00.000Z","editor":{"@context":"https://schema.org","@type":"Person","name":"Dr Hayley Willacy, FRCGP ","url":"https://patient.info/authors/dr-hayley-willacy","image":"https://images.ctfassets.net/xxv4b9mbhlgd/au_img_9ae78124-a78f-4c03-b7b9-2a4f553aa0aa/7248e606fae7eef0a0c79291cae41513/users-Hayley.jpg","jobTitle":"General Practitioner, Medical Author","sameAs":["http://www.rcgp.org.uk/rcgp-near-you/faculties/north-west-england-region/cumbria-faculty.aspx","http://sites.bmh.manchester.ac.uk/cbme/index.aspx","http://www.lancaster.ac.uk/lms/","https://www.gmc-uk.org/registrants/3665912"],"worksFor":{"@type":"Organization","name":"Patient.info"},"memberOf":{"@type":"MedicalOrganization","name":"Patient.info"}},"reviewedBy":{"@context":"https://schema.org","@type":"Person","name":" Patient clinician team","url":"https://patient.info/authors/clinical","image":"","jobTitle":"","sameAs":[],"worksFor":{"@type":"Organization","name":"Patient.info"},"memberOf":{"@type":"MedicalOrganization","name":"Patient.info"}}}
```