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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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256 doctors found
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Elite

Humboldt Universität Zu Berlin And Berlin Institute Of Health

Berlin, BE, DE 10117

Mateusz Ambrozkiewicz practices. Ambrozkiewicz is rated as an Elite doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Kaufman Oculocerebrofacial Syndrome, Angelman Syndrome, Autism Spectrum Disorder, and Achalasia Microcephaly Syndrome.

Distinguished

Beilinson Campus

Petah Tiqwa, M, IL 

Lina Basel-Salmon practices. Basel-Salmon is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Kaufman Oculocerebrofacial Syndrome, Pena-Shokeir Syndrome Type 2, Camptodactyly Syndrome Guadalajara Type 1, and Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia.

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Distinguished

Ulm University

Mannheim, BW, DE 68167

Rustem Yilmaz practices. Yilmaz is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. They are also highly rated in 4 other conditions, according to our data. Their top areas of expertise are Kaufman Oculocerebrofacial Syndrome, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Blepharophimosis, and Low Nasal Bridge.

Distinguished

Institute Of Cell Biology And Neurobiology

Berlin, BE, DE 10117

Victor Tarabykin practices. Tarabykin is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Kaufman Oculocerebrofacial Syndrome, Aniridia, Borjeson-Forssman-Lehmann Syndrome, and Microcephaly.

Distinguished

Ulm University

Ulm, BW, DE 

Guntram Borck practices. Borck is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. They are also highly rated in 25 other conditions, according to our data. Their top areas of expertise are Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Blepharophimosis, Kaufman Oculocerebrofacial Syndrome, and Chondrodysplasia, Grebe Type.

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. Dr. Kim has been practicing medicine for over 26 years and is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 42 other conditions, according to our data. His top areas of expertise are Kaufman Oculocerebrofacial Syndrome, Freeman-Sheldon Syndrome, Marden-Walker Syndrome, and Schinzel-Giedion Syndrome. He is board certified in Internal Medicine. 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. Dr. Bouloux has been practicing medicine for over 17 years and is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 48 other conditions, according to our data. His top areas of expertise are TMJ Disorders, Temporomandibular Ankylosis, Freeman-Sheldon Syndrome, and Kaufman Oculocerebrofacial Syndrome. He is board certified in Maxillofacial Surgery. Dr. Bouloux is currently accepting new patients.

Distinguished

Max Planck Institute For Experimental Medicine

Maebashi, JP 37185

Hiroshi Kawabe practices. Kawabe is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Kaufman Oculocerebrofacial Syndrome, Mycobacterium Avium Complex Infections, Hypertension, and Abdominal Obesity Metabolic Syndrome.

Distinguished

Tel Aviv University

Petah Tiqwa, M, IL 

Rachel Straussberg practices. Straussberg is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. She is also highly rated in 20 other conditions, according to our data. Her top areas of expertise are Kaufman Oculocerebrofacial Syndrome, Giant Axonal Neuropathy, Drug Induced Dyskinesia, and Cortical Dysplasia.

Distinguished
Internal Medicine

The University Of Chicago Medical Center

5841 S Maryland Ave
 
Chicago, IL 60637

Elbert Huang is an Internal Medicine doctor. Dr. Huang has been practicing medicine for over 25 years and is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 41 other conditions, according to our data. His top areas of expertise are Type 2 Diabetes, Marden-Walker Syndrome, Schinzel-Giedion Syndrome, and Otopalatodigital Syndrome Type 1. He is board certified in Internal Medicine. Dr. Huang is currently accepting new patients.

Distinguished
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. Dr. Medici has been practicing medicine for over 21 years and is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial 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. Dr. Medici is currently accepting new patients.

Distinguished
Ophthalmology

Salus University

8380 Old York Rd
 
Elkins Park, PA 19027

James Lewis is an Ophthalmologist. Dr. Lewis has been practicing medicine for over 39 years and is rated as a Distinguished doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 43 other conditions, according to our data. His top areas of expertise are Barber Say Syndrome, Goldenhar Disease, Muenke Syndrome, and Femoral Facial Syndrome. He is board certified in Ophthalmology. Dr. Lewis is currently accepting new patients.

Advanced
Orthopedics

The University Of Chicago Medical Center

5841 S Maryland Ave
 
Chicago, IL 60637

Michael Lee is an Orthopedics doctor. Dr. Lee has been practicing medicine for over 21 years and is rated as an Advanced doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 46 other conditions, according to our data. His top areas of expertise are Spondylolisthesis, Scoliosis, Sciatica, and Spinal Stenosis. He is board certified in Orthopedic Surgery. Dr. Lee 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. Dr. Mertzenich is rated as an Advanced doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 51 other conditions, according to our data. His top areas of expertise are Pitt-Hopkins Syndrome, Ascher Syndrome, Apert Syndrome, and Pfeiffer Syndrome. Dr. Mertzenich is currently accepting new patients.

Advanced
Internal Medicine

Youngstown Ohio Hospital Company LLC

20 Ohltown Rd
 
Youngstown, OH 44515

Paul Watanakunakorn is an Internal Medicine doctor. Dr. Watanakunakorn is rated as an Advanced doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 40 other conditions, according to our data. His top areas of expertise are Kaufman Oculocerebrofacial Syndrome, Freeman-Sheldon Syndrome, Schinzel-Giedion Syndrome, and Saethre-Chotzen Syndrome. Dr. Watanakunakorn is currently accepting new patients.

Advanced
Otolaryngology

The University Of Chicago Medical Center

5841 S Maryland Ave
 
Chicago, IL 60637

Zhen Gooi is an Otolaryngologist. Dr. Gooi has been practicing medicine for over 13 years and is rated as an Advanced doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 61 other conditions, according to our data. His top areas of expertise are Nasopharyngeal Carcinoma, Oral Squamous Cell Carcinoma, Tongue Cancer, and Mikulicz Disease. He is board certified in Otolaryngology. Dr. Gooi is currently accepting new patients.

Advanced
Plastic Surgery
Oral and Maxillofacial Surgery

Yale University

20 York St
 
New Haven, CT 06510

Derek Steinbacher is a Plastic Surgeon and an Oral and Maxillofacial Surgeon. Dr. Steinbacher has been practicing medicine for over 17 years and is rated as an Advanced doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 52 other conditions, according to our data. His top areas of expertise are Pfeiffer Syndrome, Acrocephalopolydactyly, Apert Syndrome, and Saethre-Chotzen Syndrome. He is board certified in Plastic And Reconstructive Surgery and Oral Surgery. Dr. Steinbacher is currently accepting new patients.

Advanced
Internal Medicine

Ochsner Clinic LLC

1514 Jefferson Hwy
 
New Orleans, LA 70121

Mohammad Nawaz is an Internal Medicine doctor. Dr. Nawaz has been practicing medicine for over 35 years and is rated as an Advanced doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 76 other conditions, according to our data. His top areas of expertise are Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Limb-Girdle Muscular Dystrophy Type 1B. He is board certified in Internal Medicine. Dr. Nawaz is currently accepting new patients.

Advanced
General Practice

Barreras Medical Group Csp

112 Urb Haciendas Del Club
 
Cabo Rojo, PR 00623

Juan Barreras is a General Practice doctor. Dr. Barreras has been practicing medicine for over 21 years and is rated as an Advanced doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 39 other conditions, according to our data. His top areas of expertise are Otopalatodigital Syndrome Type 1, Curry Jones Syndrome, Carey-Fineman-Ziter Syndrome, and Muenke Syndrome. He is board certified in General Practice.

Advanced
Internal Medicine

Marshall County Memorial Hospital

415 9th St
 
Britton, SD 57430

Scott Purintun is an Internal Medicine doctor. Dr. Purintun has been practicing medicine for over 37 years and is rated as an Advanced doctor by MediFind in the treatment of Kaufman Oculocerebrofacial Syndrome. He is also highly rated in 90 other conditions, according to our data. His top areas of expertise are Type 2 Diabetes, Trichohepatoenteric Syndrome, Diarrhea, and Low Potassium Level. He is board certified in Internal Medicine. Dr. Purintun is currently accepting new patients.

Showing 1-20 of 256

What is the definition of Kaufman Oculocerebrofacial Syndrome?

Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems (oculo-), intellectual disability (-cerebro-), and a distinctive pattern of facial features (-facial).

Most individuals with Kaufman oculocerebrofacial syndrome have an unusually small head size (microcephaly), and some have structural abnormalities of the brain. Affected individuals have weak muscle tone (hypotonia), and are delayed in developing motor skills such as walking. Intellectual disability is severe or profound. Most affected individuals never acquire the ability to speak.

Eye abnormalities and their effect on vision vary among people with Kaufman oculocerebrofacial syndrome. Some people with this disorder have abnormally small or poorly developed eyes (microphthalmia); microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved; missing pieces of tissue in structures that form the eye (coloboma); or underdevelopment of the nerves that carry signals between the eyes and the brain (optic nerve hypoplasia). Eyes that do not look in the same direction (strabismus), nearsightedness (myopia) or farsightedness (hyperopia), or an inward turning of the lower eyelid (entropion) can also occur.

Individuals with Kaufman oculocerebrofacial syndrome typically have a characteristic pattern of facial features. These include highly arched eyebrows, an increased distance between the inner corners of the eyes (telecanthus), a narrowing of the eye opening (blepharophimosis), skin folds covering the inner corner of the eyes (epicanthal folds), droopy eyelids (ptosis), and outside corners of the eyes that point upward (upslanting palpebral fissures). Ear abnormalities include low-set ears with small lobes and growths of skin (skin tags) in front of the ear (preauricular tags). The nose has a narrow bridge, a wide base, and nostrils that open to the front rather than downward (anteverted nares). Affected individuals may also have flat cheeks; a space between the nose and upper lip (philtrum) that is unusually long and smooth; a narrow mouth; and an unusually small jaw (micrognathia).

Other signs and symptoms that can occur in people with this disorder include short stature; hearing loss; and abnormalities of the heart, respiratory tract, gastrointestinal tract, kidneys, genitals, or skeleton. Affected individuals can live into adulthood; however, their average life expectancy is unknown because of the small number of people who have been diagnosed with this disorder.

Behind the Kaufman Oculocerebrofacial 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 Kaufman Oculocerebrofacial 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 Kaufman Oculocerebrofacial 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.