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    Last Updated: 01/09/2026

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    MediFind found 318 doctor with experience in Koolen De Vries Syndrome near Pennsylvania, US. Of these, 305 are Experienced and 13 are Advanced.

    Location
    LocationClose
    318 providers found
      Christopher N. Faber
      Advanced in Koolen De Vries Syndrome
      Pulmonary Medicine
      Advanced in Koolen De Vries Syndrome
      Pulmonary Medicine

      UPMC Comprehensive Lung Center, Cranberry, Part Of UPMC Magee-Womens Hospital

      20130 Route 19, Suite 2300, 
      Cranberry Twp, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Christopher Faber, MD, specializes in pulmonology and is certified in pulmonary disease, critical care medicine, and internal medicine by the American Board of Internal Medicine. He practices at UPMC Presbyterian and is affiliated with University of Pittsburgh Physicians, Department of Medicine. Dr. Faber completed his medical degree at the University of Pittsburgh School of Medicine. Dr. Faber specializes in general pulmonology and treating patients with hereditary hemorrhagic telangiectasia. Dr. Faber is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Bronchiectasis, Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), and Birt-Hogg-Dube Syndrome.

      Dorothy H. Hendricks
      Advanced in Koolen De Vries Syndrome
      Ophthalmology | Pediatrics
      Advanced in Koolen De Vries Syndrome
      Ophthalmology | Pediatrics

      Ophthalmology - Wills Eye Hospital

      840 Walnut Street, Floor 10, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Dorothy Hendricks is a Pediatrics specialist and an Ophthalmologist in Philadelphia, Pennsylvania. Dr. Hendricks is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Amblyopia, Strabismus, Retinochoroidal Coloboma, and Esotropia. Dr. Hendricks is currently accepting new patients.

      Experienced in Koolen De Vries Syndrome
      Pediatric Neurology | Neurology | Sleep Medicine
      Experienced in Koolen De Vries Syndrome
      Pediatric Neurology | Neurology | Sleep Medicine
      160 E Erie Ave, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Sameh Morkous is a Pediatric Neurologist and a Neurologist in Philadelphia, Pennsylvania. Dr. Morkous is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Seizures, Generalized Tonic-Clonic Seizure, Cramp-Fasciculation Syndrome, and GAPO Syndrome.

      Learn about our expert tiers
      Advanced in Koolen De Vries Syndrome
      Advanced in Koolen De Vries Syndrome

      Penn Neuroscience Center - Neurology

      3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Eric Lancaster is a Neurologist in Philadelphia, Pennsylvania. Dr. Lancaster is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Encephalitis, Paraneoplastic Cerebellar Degeneration, Anti-NMDA Receptor Encephalitis, and Continuous Muscle Fiber Activity Hereditary. Dr. Lancaster is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Ophthalmology
      Advanced in Koolen De Vries Syndrome
      Ophthalmology

      Scheie Eye Institute Perelman

      3400 Civic Center Boulevard, West Pavilion, 3rd Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Tomas Aleman is an Ophthalmologist in Philadelphia, Pennsylvania. Dr. Aleman is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Leber Congenital Amaurosis, Choroideremia, Retinopathy Pigmentary Mental Retardation, and Cone-Rod Dystrophy. Dr. Aleman is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Advanced in Koolen De Vries Syndrome

      CHOP Specialty Care, Lancaster

      2104 Harrisburg Pike, Suite 300, 
      Lancaster, PA 
      Languages Spoken:
      English

      William Anninger is an Ophthalmologist in Lancaster, Pennsylvania. Dr. Anninger is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Strabismus, Retinopathy Pigmentary Mental Retardation, Congenital Cataract, and Epicanthal Folds.

      Advanced in Koolen De Vries Syndrome
      Medical Genetics
      Advanced in Koolen De Vries Syndrome
      Medical Genetics

      Penn Translational Medicine And Human Genetics

      3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Staci Kallish is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Kallish is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Neurofibromatosis Type 1 (NF1), Gaucher Disease Type 1, Fabry Disease, and Neurofibromatosis. Dr. Kallish is currently accepting new patients.

      Randy Jeffrey
      Experienced in Koolen De Vries Syndrome
      Experienced in Koolen De Vries Syndrome

      Office

      120 E 2nd St Fl 2, 
      Erie,, PA 
      Languages Spoken:
      English

      Randy Jeffrey, MD, PhD, specializes in cardiology and is certified in cardiovascular disease and internal medicine by the American Board of Internal Medicine. He practices at Chautauqua Medical Services - Great Lakes Physician Practice and is affiliated with UPMC Hamot, UPMC Presbyterian, and UPMC Northwest. Dr. Jeffrey earned his medical degree at Indiana University School of Medicine. Dr. Jeffrey is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Apoplexy, Atrial Fibrillation, Long QT Syndrome 3, and Long QT Syndrome 5.

      Amber M. Hoffman
      Experienced in Koolen De Vries Syndrome
      Experienced in Koolen De Vries Syndrome

      The Paul C. Gaffney Division Of Pediatric Hospital Medicine

      4401 Penn Avenue, 
      Pittsburgh, PA 
      Languages Spoken:
      English, Spanish

      Amber Hoffman, MD specializes in pediatric hospital medicine and is board-certified by the American Board of Pediatrics. She practices at The Paul C. Gaffney Division of Pediatric Hospital Medicine and is affiliated with UPMC Children's Hospital of Pittsburgh. Dr. Hoffman completed her medical degree and residency at the University of Pittsburgh School of Medicine. Dr. Hoffman is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Early Infantile Epileptic Encephalopathy, Microcephaly Deafness Syndrome, CHARGE Syndrome, and Wildervanck Syndrome.

      Conrad Knudson
      Experienced in Koolen De Vries Syndrome
      Family Medicine
      Experienced in Koolen De Vries Syndrome
      Family Medicine

      UPMC Primary Care

      1207 South Queen Street, 
      York, PA 
      Languages Spoken:
      English, Spanish
      Accepting New Patients
      Offers Telehealth

      Conrad Knudson is a primary care provider, practicing in Family Medicine in York, Pennsylvania. Dr. Knudson is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Maturity Onset Diabetes of the Young, Familial Hypertension, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Knudson is currently accepting new patients.

      Ozgur Dede
      Experienced in Koolen De Vries Syndrome
      Pediatric Orthopedics | Orthopedics
      Experienced in Koolen De Vries Syndrome
      Pediatric Orthopedics | Orthopedics

      Pediatric Orthopaedics In Lawrenceville

      4401 Penn Avenue, 
      Pittsburgh, PA 
      Languages Spoken:
      English, Turkish
      Accepting New Patients

      Ozgur Dede, MD, is a double fellowship trained, board-certified pediatric orthopaedic and spine surgeon at UPMC Children’s Hospital of Pittsburgh. Dr. Dede earned his medical degree from Hacettepe University in Ankara, Turkey where he also completed his orthopaedic surgery residency training. He pursued subspecialty training in pediatric orthopaedic surgery and spine surgery in the United States and completed 4 years of surgical fellowship training at Cincinnati Children's Hospital Medical Center, the University of Pittsburgh School of Medicine, Alfred I duPont Hospital for Children, and the UCSF Spine Center. His clinical interests include treatment of spinal problems in children including scoliosis, spondylolysis, spondylolisthesis, cervical instability, disc herniation and spinal stenosis. He also treats neuromuscular conditions including cerebral palsy and spina bifida, arthrogryposis and other syndromic afflictions.  His research interests include the non-operative and operative management of all types of pediatric scoliosis as well as management of hip and lower extremity deformities in children with spasticity. View Dr. Dede’s full list of publications from PubMed. Dr. Dede is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Scoliosis, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Osteotomy, and Spinal Fusion.

      Experienced in Koolen De Vries Syndrome
      Experienced in Koolen De Vries Syndrome

      Penn Translational Medicine And Human Genetics

      3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Katherine Nathanson is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Nathanson is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Pheochromocytoma, Cowden Syndrome, Peutz-Jeghers Syndrome, and Hypothalamic Hamartomas. Dr. Nathanson is currently accepting new patients.

      Michael J. Govi
      Experienced in Koolen De Vries Syndrome
      Family Medicine
      Experienced in Koolen De Vries Syndrome
      Family Medicine

      Renaissance Family Practice-UPMC

      200 Delafield Road, Suite 2030, 
      Pittsburgh, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Michael Govi, MD, is a family medicine physician and certified by the American Board of Family Medicine. Dr. Govi received his medical degree from the University of Pittsburgh School of Medicine and completed his residency at UPMC St. Margaret. He practiced medicine in the United States Air Force before returning to Pittsburgh in 2000. Dr. Govi’s clinical interests include preventive health, exercise, and nutrition. He is a member of the American Academy of Family Physicians. He enjoys spending time with his family, running, and looks forward to snowboarding in the winter. Dr. Govi is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Van Maldergem Syndrome, Cardiomyopathy Hypogonadism Metabolic Anomalies, Nijmegen Breakage Syndrome, and Yunis-Varon Syndrome.

      Thomas C. Keller
      Experienced in Koolen De Vries Syndrome
      Internal Medicine
      Experienced in Koolen De Vries Syndrome
      Internal Medicine

      Hillside Internal Medicine

      250 Fame Avenue, Suite 135, 
      Hanover, PA 
      Languages Spoken:
      English

      Thomas Keller is a primary care provider, practicing in Internal Medicine in Hanover, Pennsylvania. Dr. Keller is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Hypertension, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, and Maturity Onset Diabetes of the Young.

      David Strasser
      Experienced in Koolen De Vries Syndrome
      Experienced in Koolen De Vries Syndrome

      Flagship Cardiac Vascular And Thoracic Surgery Of Erie PC

      120 E 2nd St, 
      Erie, PA 
      Languages Spoken:
      English

      David Strasser is a Cardiologist in Erie, Pennsylvania. Dr. Strasser is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Coronary Heart Disease, Heart Attack, Jervell Lange-Nielsen Syndrome (JLNS), Long QT Syndrome 1, and Pacemaker Implantation.

      Jeffrey W. Campbell
      Experienced in Koolen De Vries Syndrome
      General Surgery | Pediatrics
      Experienced in Koolen De Vries Syndrome
      General Surgery | Pediatrics
      2932 Springfield Road, 
      Broomall, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Jeffrey Campbell is a General Surgeon and a Pediatrics provider in Broomall, Pennsylvania. Dr. Campbell is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Achondroplasia, Increased Head Circumference, Spondyloepiphyseal Dysplasia, Bone Graft, and Adenoidectomy. Dr. Campbell is currently accepting new patients.

      Yuli Y. Kim
      Experienced in Koolen De Vries Syndrome
      Cardiology
      Experienced in Koolen De Vries Syndrome
      Cardiology

      Penn Heart And Vascular Center

      3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Yuli Kim is a Cardiologist in Philadelphia, Pennsylvania. Dr. Kim is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Congenital Heart Disease (CHD), Tetralogy of Fallot, Bicuspid Aortic Valve, Heart Transplant, and Thrombectomy. Dr. Kim is currently accepting new patients.

      Justine Schober
      Experienced in Koolen De Vries Syndrome
      Experienced in Koolen De Vries Syndrome

      UPMC Urology

      300 State Street, Suite 301B, 
      Erie, PA 
      Experience:
      44+ years
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Justine Schober, MD, specializes in urology. She practices at Lakeview Urology and is affiliated with UPMC Hamot. She completed her fellowship at University of London, residency at UPMC Hamot, and medical degree at Drexel/Hahnemann University College of Medicine. Dr. Schober is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Mixed Gonadal Dysgenesis, Posterior Urethral Valves, Neurogenic Bowel, Ureteroscopy, and Vaginectomy.

      Sara L. Partington
      Experienced in Koolen De Vries Syndrome
      Experienced in Koolen De Vries Syndrome

      Penn Heart And Vascular Center

      3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Sara Partington is a Cardiologist in Philadelphia, Pennsylvania. Dr. Partington is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Congenital Heart Disease (CHD), Tetralogy of Fallot, Pediatric Myocarditis, Tricuspid Atresia, and Thrombectomy. Dr. Partington is currently accepting new patients.

      Karen S. Carvalho
      Experienced in Koolen De Vries Syndrome
      Pediatrics | Pediatric Neurology
      Experienced in Koolen De Vries Syndrome
      Pediatrics | Pediatric Neurology
      500 York Road, 
      Jenkintown, PA 
      Languages Spoken:
      English

      Karen Carvalho is a Pediatrics specialist and a Pediatric Neurologist in Jenkintown, Pennsylvania. Dr. Carvalho is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Tetrasomy X, Absence Seizure, Seizures, and Epilepsy Juvenile Absence.

      Showing 1-20 of 318

      Last Updated: 01/09/2026

      What is the definition of Koolen De Vries Syndrome?

      Koolen de Vries syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral features. Other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features. Males with Koolen de Vries syndrome often have undescended testes (cryptorchidism). Other symptoms may include defects in the walls between the chambers of the heart (septal defects) or other heart defects, kidney problems, and skeletal anomalies such as foot deformities. It is caused by genetic changes in the KANSL1 gene, or by the loss of a small amount of genetic material in chromosome 17 that includes the KANSL1 gene (chromosome 17 q21.31 microdeletion). Inheritance is autosomal dominant.

      When should I see a Koolen De Vries Syndrome doctor in Pennsylvania, US?

      There are various reasons why you may want to see a specialist, such as: 

      • Your primary care provider recommends it. 
      • Your condition requires expert knowledge and specialized care. 
      • Your symptoms persist or worsen despite treatment. 
      • You need specialized testing or procedures. 
      • You want a second opinion.  

      What should I consider when choosing a Koolen De Vries Syndrome doctor in Pennsylvania, US?

      It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

      How does MediFind rank Koolen De Vries Syndrome doctors in Pennsylvania, US?

      MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

      What types of insurance are accepted by Koolen De Vries Syndrome doctors in Pennsylvania, US?

      Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

      How can I book an appointment online with a Koolen De Vries Syndrome doctor in Pennsylvania, US?

      MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Koolen De Vries Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Koolen De Vries Syndrome doctor?

      Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

      How can I prepare for my appointment with a Koolen De Vries Syndrome doctor in Pennsylvania, US?

      Prepare for your appointment by gathering the following items: 

      • Copies of medical records (dating back at least one year) 
      • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
      • Family history of disease 
      • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
      • Allergies to medications, food, latex, insects, etc.  
      • List of questions and concerns 
      • Your insurance card 

      You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

      What questions should I ask my Koolen De Vries Syndrome doctor?

      Here are some sample questions: 

      • Can you explain in simple terms what this condition is and how it’s treated? 
      • What symptoms or side effects should I watch for? 
      • What tests will be involved, and when can I expect results? 
      • Are there other specialists I need to see? 
      • What’s the best way to reach you if I have follow-up questions? 

      How can I learn about the latest clinical trials and research advances my Koolen De Vries Syndrome doctor may know about?

      MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

      MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

      Can I filter my search to show male or female Koolen De Vries Syndrome doctors in Pennsylvania, US?

      Look for the filter feature on the left side of the Koolen De Vries Syndrome doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

      Can I filter my search to find a Koolen De Vries Syndrome doctor that offers video calls?

      Look for the filter feature on the left-side of the Koolen De Vries Syndrome doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

      Reviewed on: 11/11/24  

      By: MediFind Medical Staff 

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