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    Last Updated: 10/30/2025

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    MediFind found 310 doctor with experience in Koolen De Vries Syndrome near Pennsylvania, US. Of these, 299 are Experienced and 11 are Advanced.

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    310 providers found
      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.

      Experienced in Koolen De Vries Syndrome
      Pediatric Otolaryngology | Pediatrics | Otolaryngology
      Experienced in Koolen De Vries Syndrome
      Pediatric Otolaryngology | Pediatrics | Otolaryngology

      Lehigh Valley Physician Group

      1245 S Cedar Crest Blvd, 201 Lvpg Obstetrics And Gy, 
      Allentown, PA 
      Languages Spoken:
      English

      Sri Chennupati is a Pediatric Otolaryngologist and a Pediatrics provider in Allentown, Pennsylvania. Dr. Chennupati is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Gorlin-Chaudhry-Moss Syndrome, Crouzon Syndrome, Acrofrontofacionasal Dysostosis Syndrome, Stridor, and Adenoidectomy.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Paul Demjanenko
      Experienced in Koolen De Vries Syndrome
      Experienced in Koolen De Vries Syndrome

      UPMC Heart And Vascular Institute

      120 East 2nd Street, Floor 2, 
      Erie, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Paul Demjanenko, MD, specializes in cardiology and is certified in internal medicine and cardiovascular disease by the American Board of Internal Medicine. He practices at Chautauqua Medical Services - Great Lakes Physician Practice and is affiliated with UPMC Hamot and UPMC Northwest. Dr. Demjanenko earned his medical degree at Drexel/Hahnemann University College of Medicine. Dr. Demjanenko is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Peripheral Artery Disease, Arterial Insufficiency, Arterial Embolism, Carotid Artery Disease, and Angioplasty.

      Learn about our expert tiers
      Randy Jeffrey
      Experienced in Koolen De Vries Syndrome
      Experienced in Koolen De Vries Syndrome

      UPMC Heart And Vascular Institute

      120 East 2nd Street, Floor 2, 
      Erie, PA 
      Languages Spoken:
      English, French
      Accepting New Patients

      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, Jervell Lange-Nielsen Syndrome (JLNS), and Long QT Syndrome 2.

      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 
      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.

      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.

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

      Penn Dermatology Perelman

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

      Emily Chu is a Dermatologist in Philadelphia, Pennsylvania. Dr. Chu is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Bowen's Disease, Warts, Melanoma, and Actinic Keratosis. Dr. Chu is currently accepting new patients.

      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

      Benedicte Lefebvre is a Cardiologist in Philadelphia, Pennsylvania. Dr. Lefebvre is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Sengers Syndrome, Heart Failure, Familial Hypertrophic Cardiomyopathy, Patent Foramen Ovale, and Patent Foramen Ovale Repair. Dr. Lefebvre is currently accepting new patients.

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

      Penn Dermatology Perelman

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

      Nicholas Mollanazar is a Dermatologist in Philadelphia, Pennsylvania. Dr. Mollanazar is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Prurigo Nodularis, Hidradenitis Suppurativa, Liver Spots, and Universal Acquired Melanosis. Dr. Mollanazar is currently accepting new patients.

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

      Penn Heart And Vascular Center Radnor

      145 King Of Prussia Road, Suite 110, 
      Center Radnor, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Ashley Brogan is a Cardiologist in Center Radnor, Pennsylvania. Dr. Brogan is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Cardiomyopathy, Degos Disease, Coronary Heart Disease, and Vasculitis. Dr. Brogan is currently accepting new patients.

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

      Penn Dermatology Pennsylvania Hospital

      235 South 8th Street, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Robert Micheletti is a Dermatologist in Philadelphia, Pennsylvania. Dr. Micheletti is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Acute Febrile Neutrophilic Dermatosis, Hidradenitis Suppurativa, Calciphylaxis, and Pyoderma Gangrenosum. Dr. Micheletti is currently accepting new patients.

      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
      Offers Telehealth

      Victor Ferrari is a Cardiologist in Philadelphia, Pennsylvania. Dr. Ferrari is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Cardiomyopathy, Bicuspid Aortic Valve, Sengers Syndrome, Heart Valve Repair, and Cardiac Ablation. Dr. Ferrari is currently accepting new patients.

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

      Penn Dermatology Bucks County

      1000 Floral Vale Blvd, Suite 100, 
      Yardley, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Lisa Pappas is a Dermatologist in Yardley, Pennsylvania. Dr. Pappas is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Localized Scleroderma, Graham-Little-Piccardi-Lassueur Syndrome, Dermatomyositis, and Scleroderma. Dr. Pappas is currently accepting new patients.

      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 Choroideremia, Leber Congenital Amaurosis, Retinopathy Pigmentary Mental Retardation, and Cone-Rod Dystrophy. Dr. Aleman is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Pediatric Pulmonology | Pediatrics | Intensive Care Medicine
      Advanced in Koolen De Vries Syndrome
      Pediatric Pulmonology | Pediatrics | Intensive Care Medicine

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Oscar Mayer is a Pediatric Pulmonologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Mayer is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Duchenne Muscular Dystrophy, Spondylocostal Dysostosis, Spinal Muscular Atrophy Type 2, and Microcephaly Deafness Syndrome.

      Advanced in Koolen De Vries Syndrome
      Medical Genetics | Pediatrics
      Advanced in Koolen De Vries Syndrome
      Medical Genetics | Pediatrics
      3401 Civic Center Blvd, 9nw63, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Dena Matalon is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Matalon is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Campomelia Cumming Type, Coffin-Lowry Syndrome, Microcephaly Deafness Syndrome, and Nevoid Basal Cell Carcinoma Syndrome.

      Advanced in Koolen De Vries Syndrome
      Pediatric Orthopedics | Orthopedics
      Advanced in Koolen De Vries Syndrome
      Pediatric Orthopedics | Orthopedics

      Children's Surgical Associates Ltd

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Jason Anari is a Pediatric Orthopedics specialist and an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Anari is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Scoliosis, Adolescent Idiopathic Scoliosis, Wildervanck Syndrome, Spinal Fusion, and Osteotomy.

      Showing 1-20 of 310

      Last Updated: 10/30/2025

      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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