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Elite
  • Global leaders in their field
  • Publish in medical journals frequently
  • Speak at conferences
  • Participate in clinical trials
  • Likely to work with cutting edge treatments
  • Likely to hold leadership positions in their organization
Distinguished
  • Leaders in their field
  • Strong research portfolio
  • Likely to work with cutting edge treatments
  • Likely to be a leader in their field regionally
Advanced
  • Likely to be excellent at diagnosing and treating conditions
  • Treat many patients and have extensive experience in their field
  • Less likely to publish, speak at conferences, or participate in clinical trials
Experienced
  • Primarily treat patients
  • May be specialists or primary care physicians
  • Have great experience in diagnosing and treating conditions
  • Less likely to set themselves apart from peers by publishing, speaking at conferences, or participating in clinical trials
  • Majority of doctors fall within this rating
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1991 doctors found
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Elite

Radboud University Medical Center

Nijmegen, GE, NL 

Ronald Roepman practices. Roepman is rated as an Elite doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 24 other conditions, according to our data. His top areas of expertise are Joubert Syndrome, Nephronophthisis, Leber Congenital Amaurosis, and Asphyxiating Thoracic Dystrophy.

Elite

University Of Pavia

Department Of Molecular Medicine
 
Pavia, IT 

Enza Valente practices. Valente is rated as an Elite doctor by MediFind in the treatment of Joubert Syndrome. She is also highly rated in 35 other conditions, according to our data. Her top areas of expertise are Joubert Syndrome, Cerebellar Agenesis, Orofaciodigital Syndrome 6, and Primary Ciliary Dyskinesia.

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Elite
Medical Genetics
Pediatrics

University Of Zurich

Seattle, WA 98195

Ruxandra Bachmann-Gagescu is a Medical Genetics specialist and a Pediatrics doctor. Dr. Bachmann-Gagescu is rated as an Elite doctor by MediFind in the treatment of Joubert Syndrome. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Joubert Syndrome, Cerebellar Agenesis, Encephalocele, and Fish-Eye Disease.

Elite
Medical Genetics

National Institutes Of Health

4800 Sand Point Way Ne # M2-9
 
Seattle, WA 98105

Melissa Parisi is a Medical Genetics doctor. Dr. Parisi is rated as an Elite doctor by MediFind in the treatment of Joubert Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Joubert Syndrome, Cerebellar Agenesis, Nephronophthisis, and Polydactyly.

Distinguished

Newcastle University

Newcastle Upon Tyne, ENG, GB NE45P

John Sayer practices. Sayer is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 30 other conditions, according to our data. His top areas of expertise are Autosomal Recessive Polycystic Kidney Disease, Nephrocalcinosis, Joubert Syndrome, and Nephronophthisis.

Distinguished

Newcastle University

Newcastle Upon Tyne, ENG, GB 

Simon Ramsbottom practices. Ramsbottom is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Joubert Syndrome, Cerebellar Agenesis, Nephronophthisis, and Asphyxiating Thoracic Dystrophy.

Distinguished
Child Neurology
Pediatrics

Dignity Health

8010 Frost St
 
San Diego, CA 92123

Joseph Gleeson is a Child Neurologist and a Pediatrics doctor. Dr. Gleeson is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 58 other conditions, according to our data. His top areas of expertise are Coach Syndrome, Joubert Syndrome, Achalasia Microcephaly Syndrome, and Microcephaly. Dr. Gleeson is currently accepting new patients.

Distinguished

University Children's Hospital

Zurich, ZH, CH 

Eugen Boltshauser practices. Boltshauser is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 32 other conditions, according to our data. His top areas of expertise are Cerebellar Agenesis, Cerebellar Hypoplasia, Joubert Syndrome, and Cerebellum Agenesis Hydrocephaly.

Distinguished

Newcastle University

Central Parkway
 
Newcastle Upon Tyne, ENG, GB NE13B

Elisa Molinari practices. Molinari is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Joubert Syndrome, Nephronophthisis, Cerebellar Agenesis, and Congenital Hepatic Fibrosis.

Distinguished
Medical Genetics
Pediatrics

Johns Hopkins University

600 N Wolfe St
 
Baltimore, MD 21287

Meral Gunay-Aygun is a Medical Genetics specialist and a Pediatrics doctor. Dr. Gunay-Aygun has been practicing medicine for over 34 years and is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. She is also highly rated in 34 other conditions, according to our data. Her top areas of expertise are Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, Joubert Syndrome, and Cerebellar Agenesis. She is board certified in Medical Genetics And Genomics and Pediatric Medicine. Dr. Gunay-Aygun is currently accepting new patients.

Distinguished

Hôpital Armand Trousseau

Paris, FR 

Lydie Burglen practices. Burglen is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. She is also highly rated in 17 other conditions, according to our data. Her top areas of expertise are Joubert Syndrome, Cerebellar Hypoplasia, Pontocerebellar Hypoplasia, and Oral-Facial-Digital Syndrome.

Distinguished
Pediatric Nephrology
Pediatrics

Boston Children's Hospital

1500 East Medical Center Dr
 
Ann Arbor, MI 48109

Friedhelm Hildebrandt is a Pediatric Nephrologist and a Pediatrics doctor. Dr. Hildebrandt is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 73 other conditions, according to our data. His top areas of expertise are Nephrotic Syndrome, Reflux Nephropathy, Chronic Kidney Disease, and Neurogenic Bladder. Dr. Hildebrandt is currently accepting new patients.

Distinguished

Mendel Laboratory

Rome, IT 

Marta Romani practices. Romani is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Joubert Syndrome, Orofaciodigital Syndrome 6, Cerebellar Agenesis, and Primary Ciliary Dyskinesia.

Distinguished

University Of Freiburg

Duesseldorf, NW, DE 

Carsten Bergmann practices. Bergmann is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 38 other conditions, according to our data. His top areas of expertise are Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, Polycystic Kidney Disease, and Autosomal Dominant Polycystic Kidney Disease.

Distinguished

Hôpital Necker Enfants Malades

Paris, FR 

Tania Bitach-Attie practices. Bitach-Attie is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. She is also highly rated in 55 other conditions, according to our data. Her top areas of expertise are Acrocallosal Syndrome, Curry Jones Syndrome, Meckel Syndrome, and Learman Syndrome.

Distinguished
Occupational Medicine

University Of Washington

1393 Progress Way
 
Eldersburg, MD 21784

Jennifer Dempsey is an Occupational Medicine doctor. Dr. Dempsey is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Joubert Syndrome, Cerebellar Agenesis, Encephalocele, and Polydactyly.

Distinguished

Bambino Gesù Children's Hospital

Rome, IT 

Enrico Bertini practices. Bertini is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 122 other conditions, according to our data. His top areas of expertise are Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type 2, and Primary Lateral Sclerosis.

Distinguished

Osservatorio Malattie Rare (OMAR)

IT 

Francesco Brancati practices. Brancati is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 35 other conditions, according to our data. His top areas of expertise are Liebenberg Syndrome, Joubert Syndrome, Ablepharon Macrostomia Syndrome, and KBG Syndrome.

Distinguished
Medical Genetics
Pediatrics

National Institutes Of Health

Bethesda, MD 20892

William Gahl is a Medical Genetics specialist and a Pediatrics doctor. Dr. Gahl is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. He is also highly rated in 63 other conditions, according to our data. His top areas of expertise are Albinism, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism, and Oculocutaneous Albinism Type 2.

Distinguished

Newcastle University

Translational And Clinical Research Institute, Faculty Of Medical Sciences, Newcastle University, Central Parkway
 
Newcastle Upon Tyne, ENG, GB NE13B

Shalabh Srivastava practices. Srivastava is rated as a Distinguished doctor by MediFind in the treatment of Joubert Syndrome. They are also highly rated in 4 other conditions, according to our data. Their top areas of expertise are Joubert Syndrome, Nephronophthisis, Cerebellar Agenesis, and Infantile Low Calcium Level.

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What is the definition of Joubert Syndrome?

Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

The hallmark feature of Joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI.

Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, which contributes to difficulty coordinating movements (ataxia) in early childhood. Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor apraxia). Most affected individuals have delayed development and intellectual disability, which can range from mild to severe. Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and a triangle-shaped mouth.

Joubert syndrome can include a broad range of additional signs and symptoms. The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss, and coloboma, which is a gap or split in a structure of the eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), or hormone (endocrine) problems. A combination of the characteristic features of Joubert syndrome and one or more of these additional signs and symptoms once characterized several separate disorders. Together, those disorders were referred to as Joubert syndrome and related disorders (JSRD). Now, however, any instances that involve the molar tooth sign, including those with these additional signs and symptoms, are usually considered Joubert syndrome.

Behind the Joubert Syndrome List

MediFind is the industry authority on identifying the leading medical experts and latest research in order to help patients facing complex health challenges, including Joubert Syndrome, make better health decisions. Leveraging our expertise in natural language processing and machine learning across thousands of diseases, we uncover physicians who are leading authorities on Joubert Syndrome. MediFind identifies these experts using proprietary world-class models that assess over 2.5 million global doctors based on a range of variables, including research leadership, patient volume, peer standing, and connectedness to other experts. Learn more about our methodology by exploring how MediFind works.