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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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807 doctors found
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Elite

Tallinn University Of Technology

Tallinn, EE 12618

Mari Sepp practices in Tallinn, Estonia. Dr. Sepp is rated as an Elite doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Pitt-Hopkins Syndrome, Hyperventilation, Bowen-Conradi Syndrome, and Huntington Disease.

Elite

Università Cattolica Del Sacro Cuore

Rome, IT 

Giuseppe Marangi practices in Rome, Italy. Dr. Marangi is rated as an Elite doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Pitt-Hopkins Syndrome, Early Infantile Epileptic Encephalopathy, Wolf-Hirschhorn Syndrome, and Wolf-Hirschorn Syndrome.

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Distinguished

Friedrich Alexander Universität Erlangen Nürnberg

Erlangen, BY, DE 

Christiane Zweier practices in Erlangen, Germany. Dr. Zweier is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. She is also highly rated in 22 other conditions, according to our data. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Pitt-Hopkins Syndrome, Achalasia Microcephaly Syndrome, and Microcephaly.

Distinguished

Tallinn University Of Technology

Tallinn, EE 12618

Tonis Timmusk practices in Tallinn, Estonia. Dr. Timmusk is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are Pitt-Hopkins Syndrome, Hyperventilation, Bowen-Conradi Syndrome, and Huntington Disease.

Distinguished

Università Cattolica Del Sacro Cuore

Rome, IT 

Marcella Zollino practices in Rome, Italy. Dr. Zollino is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. She is also highly rated in 28 other conditions, according to our data. Her top areas of expertise are Wolf-Hirschhorn Syndrome, Wolf-Hirschorn Syndrome, Ring Chromosome 14, and Pitt-Hopkins Syndrome.

Distinguished

Hôpital Trousseau

Paris, FR 

Irina Giurgea practices in Paris, France. Dr. Giurgea is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Pitt-Hopkins Syndrome, Familial Mediterranean Fever, Hirschsprung Disease, and Total Intestinal Aganglionosis.

Distinguished

Cardiff University

Cardiff University
 
Cardiff, WLS, GB CF244

Derek Blake practices in Cardiff, United Kingdom. Dr. Blake is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 8 other conditions, according to our data. His top areas of expertise are Myoclonus-Dystonia, Pitt-Hopkins Syndrome, Limb-Girdle Muscular Dystrophy Type 2I, and Focal Dystonia.

Distinguished

Leiden University Medical Center

Leiden, ZH, NL 

Emilia Bijlsma practices in Leiden, Netherlands. Dr. Bijlsma is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Pitt-Hopkins Syndrome, Huntington Disease, Marshall-Smith Syndrome, and Blepharophimosis.

Distinguished

University Of Manchester

Oxford, ENG, GB M139W

Jill Smith-Clayton practices in Oxford, United Kingdom. Dr. Smith-Clayton is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. She is also highly rated in 55 other conditions, according to our data. Her top areas of expertise are Blepharophimosis, Aarskog Syndrome, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, and Genital Dwarfism.

Distinguished

University Of Amsterdam

Amsterdam, NH, NL 

Raoul Hennekam practices in Amsterdam, Netherlands. Dr. Hennekam is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 108 other conditions, according to our data. His top areas of expertise are Marshall-Smith Syndrome, Nicolaides-Baraitser Syndrome, Rubinstein-Taybi Syndrome, and Micrognathia.

Distinguished

University Of Zurich

Zurich, ZH, CH 

Anita Rauch practices in Zurich, Switzerland. Dr. Rauch is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. She is also highly rated in 49 other conditions, according to our data. Her top areas of expertise are Microcephaly, Achalasia Microcephaly Syndrome, Hypotonia, and Microcephalic Osteodysplastic Primordial Dwarfism Type 2.

Distinguished
Internal Medicine

The University Of Chicago Medical Center

5841 S Maryland Ave
 
Chicago, IL 60637

Elbert Huang is an Internal Medicine doctor in Chicago, Illinois. Dr. Huang has been practicing medicine for over 25 years and is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 41 other conditions, according to our data. His top areas of expertise are Type 2 Diabetes, Weill-Marchesani Syndrome, Otopalatodigital Syndrome Type 1, and Cytochrome P450 Oxidoreductase Deficiency. He is board certified in Internal Medicine and licensed to treat patients in Illinois. Dr. Huang is currently accepting new patients.

Distinguished
Internal Medicine

Harvard Medical Faculty Phys At Beth Israel Deaconess Med Ctr Inc

330 Brookline Ave
 
Boston, MA 02215

Hans Kim is an Internal Medicine doctor in Boston, Massachusetts. Dr. Kim has been practicing medicine for over 26 years and is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 42 other conditions, according to our data. His top areas of expertise are Freeman-Sheldon Syndrome, Kaufman Oculocerebrofacial Syndrome, Weill-Marchesani Syndrome, and Otopalatodigital Syndrome Type 1. He is board certified in Internal Medicine and licensed to treat patients in Massachusetts. Dr. Kim is currently accepting new patients.

Distinguished
Oral and Maxillofacial Surgery

The Emory Clinic, Inc

Atlanta, GA 30322

Gary Bouloux is an Oral and Maxillofacial Surgeon in Atlanta, Georgia. Dr. Bouloux has been practicing medicine for over 17 years and is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 47 other conditions, according to our data. His top areas of expertise are TMJ Disorders, Temporomandibular Ankylosis, Kaufman Oculocerebrofacial Syndrome, and Freeman-Sheldon Syndrome. He is board certified in Maxillofacial Surgery and licensed to treat patients in Georgia. Dr. Bouloux is currently accepting new patients.

Distinguished
Ophthalmology

Salus University

8380 Old York Rd
 
Elkins Park, PA 19027

James Lewis is an Ophthalmologist in Elkins Park, Pennsylvania. Dr. Lewis has been practicing medicine for over 39 years and is rated as a Distinguished doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 43 other conditions, according to our data. His top areas of expertise are Acromegaloid Facial Appearance Syndrome, Acrocephalopolydactyly, Fraser Syndrome, and Orofaciodigital Syndrome 4. He is board certified in Ophthalmology and licensed to treat patients in Pennsylvania. Dr. Lewis is currently accepting new patients.

Advanced
General Surgery
Orthopedics

The University Of Chicago Medical Center

14290 S La Grange Rd
 
Orland Park, IL 60462

Michael Lee is a General Surgeon and an Orthopedics doctor in Orland Park, Illinois. Dr. Lee has been practicing medicine for over 21 years and is rated as an Advanced doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 44 other conditions, according to our data. His top areas of expertise are Spondylolisthesis, Scoliosis, Sciatica, and Adolescent Idiopathic Scoliosis. He is board certified in Orthopedic Surgery and licensed to treat patients in Illinois. Dr. Lee is currently accepting new patients.

Advanced
Neurosurgery

Northwestern Medical Faculty Foundation

Chicago, IL 60611

Jean-paul Wolinsky is a Neurosurgery doctor in Chicago, Illinois. Dr. Wolinsky has been practicing medicine for over 23 years and is rated as an Advanced doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 69 other conditions, according to our data. His top areas of expertise are Chordoma, Primary Basilar Impression, Bone Tumor, and Spinal Tumor. He is board certified in Neurosurgery and licensed to treat patients in Maryland. Dr. Wolinsky is currently accepting new patients.

Advanced
General Practice

Calais Regional Hospital

Calais, ME 04619

James Eshleman is a General Practice doctor in Calais, Maine. Dr. Eshleman has been practicing medicine for over 49 years and is rated as an Advanced doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 74 other conditions, according to our data. His top areas of expertise are Pierre Robin Sequence, Carpenter Syndrome, Oral-Facial-Digital Syndrome, and Acrocephalopolydactyly. He is board certified in Family Medicine and licensed to treat patients in Maine. Dr. Eshleman is currently accepting new patients.

Advanced
Podiatric Medicine

Crusaders Central Clinic Association

1200 W State St
 
Rockford, IL 61102

Edmond Mertzenich is a Podiatric Medicine doctor in Rockford, Illinois. Dr. Mertzenich is rated as an Advanced doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 51 other conditions, according to our data. His top areas of expertise are Pfeiffer Syndrome, Charlie M Syndrome, Femoral Facial Syndrome, and Fraser Syndrome. He is licensed to treat patients in Illinois. Dr. Mertzenich is currently accepting new patients.

Advanced
Gastroenterology
Internal Medicine

Regents Of The Univ Of Ca

2521 Stockton Blvd
 
Sacramento, CA 95817

Valentina Medici is a Gastroenterologist and an Internal Medicine doctor in Sacramento, California. Dr. Medici has been practicing medicine for over 21 years and is rated as an Advanced doctor by MediFind in the treatment of Pitt-Hopkins Syndrome. She is also highly rated in 63 other conditions, according to our data. Her top areas of expertise are Wilson Disease, Hepatocerebral Degeneration, Menkes Disease, and Occipital Horn Syndrome. She is board certified in Gastroenterology and Internal Medicine and licensed to treat patients in California. Dr. Medici is currently accepting new patients.

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What is the definition of Pitt-Hopkins Syndrome?

Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.

People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. Most affected individuals have delayed development of mental and motor skills (psychomotor delay). They are delayed in learning to walk and developing fine motor skills such as picking up small items with their fingers. People with Pitt-Hopkins syndrome typically do not develop speech; some may learn to say a few words. Many affected individuals exhibit features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills.

Breathing problems in individuals with Pitt-Hopkins syndrome are characterized by episodes of rapid breathing (hyperventilation) followed by periods in which breathing slows or stops (apnea). These episodes can cause a lack of oxygen in the blood, leading to a bluish appearance of the skin or lips (cyanosis). In some cases, the lack of oxygen can cause loss of consciousness. Some older individuals with Pitt-Hopkins syndrome develop widened and rounded tips of the fingers and toes (clubbing) because of recurrent episodes of decreased oxygen in the blood. The breathing problems occur only when the person is awake and typically first appear in mid-childhood, but they can begin as early as infancy. Episodes of hyperventilation and apnea can be triggered by emotions such as excitement or anxiety or by extreme tiredness (fatigue).

Epilepsy occurs in most people with Pitt-Hopkins syndrome and usually begins during childhood, although it can be present from birth.

Individuals with Pitt-Hopkins syndrome have distinctive facial features that include thin eyebrows, sunken eyes, a prominent nose with a high nasal bridge, a pronounced double curve of the upper lip (Cupid's bow), a wide mouth with full lips, and widely spaced teeth. The ears are usually thick and cup-shaped.

Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. However, they can also experience anxiety and behavioral problems.

Other features of Pitt-Hopkins syndrome may include constipation and other gastrointestinal problems, an unusually small head (microcephaly), nearsightedness (myopia), eyes that do not look in the same direction (strabismus), short stature, and minor brain abnormalities. Affected individuals may also have small hands and feet, a single crease across the palms of the hands, flat feet (pes planus), or unusually fleshy pads at the tips of the fingers and toes. Males with Pitt-Hopkins syndrome may have undescended testes (cryptorchidism).

Behind the Pitt-Hopkins 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 Pitt-Hopkins 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 Pitt-Hopkins 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.