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If you have a rare or serious condition, you may want to seek advice from the best doctor you can find.
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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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1339 doctors found
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Elite

Leiden University Medical Center

Leiden, ZH, NL 

Tessa Van Dijk practices in Leiden, Netherlands. Dr. Van Dijk is rated as an Elite doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Pontocerebellar Hypoplasia, Achalasia Microcephaly Syndrome, Microcephaly, and Cerebellar Hypoplasia.

Distinguished

University Of Amsterdam

Amsterdam, NH, NL 

Peter Barth practices in Amsterdam, Netherlands. Dr. Barth is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. He is also highly rated in 9 other conditions, according to our data. His top areas of expertise are Pontocerebellar Hypoplasia, Cerebellar Multiple System Atrophy, Cerebellar Degeneration, and Harding Ataxia.

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Distinguished

Leiden University Medical Center

Leiden University Medical Center
 
Leiden, ZH, NL 

Frank Baas practices in Leiden, Netherlands. Dr. Baas is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. He is also highly rated in 28 other conditions, according to our data. His top areas of expertise are Pontocerebellar Hypoplasia, Tomaculous Neuropathy, Pneumococcal Meningitis, and Cerebelloolivary Atrophy.

Distinguished

Medical University Of Innsbruck

Aachen, NW, DE 

Sabine Rudnik-Schoneborn practices in Aachen, Germany. Dr. Rudnik-Schoneborn is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 26 other conditions, according to our data. Her top areas of expertise are Pontocerebellar Hypoplasia, Spinal Muscular Atrophy Type 1, Spinal Muscular Atrophy, and Spinal Muscular Atrophy Type 2.

Distinguished
Neurology
Pediatrics

California Surgical Service

8010 Frost St
 
San Diego, CA 92123

Joseph Gleeson is a Neurologist and a Pediatrics doctor in San Diego, California. Dr. Gleeson is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. He is also highly rated in 56 other conditions, according to our data. His top areas of expertise are Coach Syndrome, Joubert Syndrome, Microcephaly, and Achalasia Microcephaly Syndrome. He is licensed to treat patients in California. Dr. Gleeson is currently accepting new patients.

Distinguished

University Of Amsterdam

Amsterdam, NH, NL 

Bwee The-Poll practices in Amsterdam, Netherlands. Dr. The-Poll is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. They are also highly rated in 23 other conditions, according to our data. Their top areas of expertise are X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, Zellweger Syndrome, and Pontocerebellar Hypoplasia.

Distinguished

Tel Aviv University

Holon, TA, IL 

Tally Sagie-Lerman practices in Holon, Israel. Dr. Sagie-Lerman is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. They are also highly rated in 49 other conditions, according to our data. Their top areas of expertise are Cerebellum Agenesis Hydrocephaly, Pontocerebellar Hypoplasia, Polymicrogyria, and Cerebellar Hypoplasia.

Distinguished

Yokohama City University Graduate School Of Medicine

Yokohama, JP 

Naomichi Matsumoto practices in Yokohama, Japan. Dr. Matsumoto is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. They are also highly rated in 186 other conditions, according to our data. Their top areas of expertise are Coffin-Siris Syndrome, Cornelia De Lange Syndrome, Microcephaly, and Achalasia Microcephaly Syndrome.

Distinguished

Istituto Giannina Gaslini

Genoa, IT 

Andrea Accogli practices in Genoa, Italy. Dr. Accogli is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 12 other conditions, according to our data. Her top areas of expertise are Pontocerebellar Hypoplasia, Cerebellar Hypoplasia, Photosensitive Epilepsy, and Aicardi Syndrome.

Distinguished

German Society For Paediatrics And Adolescent Medicine

Berlin, DE 10115

Ingeborg Mann-Krageloh practices in Berlin, Germany. Dr. Mann-Krageloh is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 18 other conditions, according to our data. Her top areas of expertise are Metachromatic Leukodystrophy, Leukodystrophy, CACH Syndrome, and Pontocerebellar Hypoplasia.

Distinguished

National Research Centre

Cairo, C, EG 

Maha Zaki practices in Cairo, Egypt. Dr. Zaki is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 59 other conditions, according to our data. Her top areas of expertise are Hypotonia, Achalasia Microcephaly Syndrome, Microcephaly, and Cortical Dysplasia.

Distinguished

Bambino Gesù Children's Hospital

Rome, IT 00146

Enrico Bertini practices in Rome, Italy. Dr. Bertini is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. He is also highly rated in 128 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

Hamamatsu University School Of Medicine

Hamamatsu, JP 

Hirotomo Saitsu practices in Hamamatsu, Japan. Dr. Saitsu is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. They are also highly rated in 106 other conditions, according to our data. Their top areas of expertise are Spasmus Nutans, Epilepsy in Children, Infant Epilepsy with Migrant Focal Crisis, and West Syndrome.

Distinguished

University Children's Hospital

Children's University Hospital
 
Zurich, ZH, CH 

Eugen Boltshauser practices in Zurich, Switzerland. Dr. Boltshauser is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. 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
Nephrology
Neurology

Icahn School Of Medicine At Mount Sinai

New York, NY 10029

Joanna Jen is a Nephrologist and a Neurologist in New York, New York. Dr. Jen has been practicing medicine for over 29 years and is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 15 other conditions, according to our data. Her top areas of expertise are Retinal Vasculopathy with Cerebral Leukodystrophy, Pontocerebellar Hypoplasia, Episodic Ataxia with Nystagmus, and Acute Cerebellar Ataxia. She is board certified in Nephrology and licensed to treat patients in California. Dr. Jen is currently accepting new patients.

Distinguished

Karadeniz Technical University

Ankara, TR 

Fatma Sonmez practices in Ankara, Turkey. Dr. Sonmez is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Pontocerebellar Hypoplasia, Coffin-Siris Syndrome, Guanidinoacetate Methyltransferase Deficiency, and Early Infantile Epileptic Encephalopathy.

Distinguished

IRCCS Stella Maris Foundation

Pisa, IT 

Denise Cassandrini practices in Pisa, Italy. Dr. Cassandrini is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 18 other conditions, according to our data. Her top areas of expertise are Pontocerebellar Hypoplasia, Chanarin-Dorfman Syndrome, Myoglobinuria Recurrent, and X-Linked Myotubular Myopathy.

Distinguished

Newcastle University

School Of Clinical Medicine
 
Cambridge, ENG, GB 

Juliane Muller practices in Cambridge, United Kingdom. Dr. Muller is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Congenital Myasthenic Syndrome, Myasthenia Gravis Congenital, Pontocerebellar Hypoplasia, and Myasthenia Gravis.

Distinguished

Hôpital Armand Trousseau

Paris, FR 

Lydie Burglen practices in Paris, France. Dr. Burglen is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 18 other conditions, according to our data. Her top areas of expertise are Joubert Syndrome, Cerebellar Hypoplasia, Pontocerebellar Hypoplasia, and Oral-Facial-Digital Syndrome.

Distinguished

Newcastle University

Cambridge, ENG, GB 

Rita Horvath practices in Cambridge, United Kingdom. Dr. Horvath is rated as a Distinguished doctor by MediFind in the treatment of Pontocerebellar Hypoplasia. She is also highly rated in 64 other conditions, according to our data. Her top areas of expertise are Marinesco Sjogren Syndrome, Coenzyme Q Cytochrome C Reductase Deficiency, Harding Ataxia, and MELAS Syndrome.

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What is the definition of Pontocerebellar Hypoplasia?

Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.

Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood.

Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.

The two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy.

Common features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures.

The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions.

Behind the Pontocerebellar Hypoplasia 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 Pontocerebellar Hypoplasia, 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 Pontocerebellar Hypoplasia. 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.