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    Last Updated: 02/22/2026

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    MediFind found 28 doctor with experience in Cornelia De Lange Syndrome near Pennsylvania, US. Of these, 24 are Experienced and 4 are Advanced.

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    LocationClose
    28 providers found
      Advanced in Cornelia De Lange Syndrome
      Family Medicine
      Advanced in Cornelia De Lange Syndrome
      Family Medicine

      UPMC Altoona Family Physicians

      501 Howard Ave Ste F4, 
      Altoona, PA 
      Languages Spoken:
      English

      Khyati Kadia is a primary care provider, practicing in Family Medicine in Altoona, Pennsylvania. Dr. Kadia is rated as an Advanced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are Camptodactyly Syndrome Guadalajara Type 2, Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome, Camptodactyly Syndrome Guadalajara Type 1, and Winchester Syndrome.

      Gregory D. Borowski
      Experienced in Cornelia De Lange Syndrome
      Experienced in Cornelia De Lange Syndrome

      Geisinger Scranton - Endocrinology

      3 West Olive Street, Suite 220, 
      Scranton, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Dr. Borowski is a board-certified and fellowship-trained endocrinologist specializing in metabolic medicine. He earned his medical degree from Hahnemann University, and completed his residency at University of Pittsburgh Medical Center - McKeesport Hospital. He completed his fellowship at Hahnemann University Hospital. Dr. Borowski is certified by the American Board of Internal Medicine in endocrinology, diabetes and metabolism. Dr. Borowski is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Type 1 Diabetes (T1D), Type 2 Diabetes (T2D), Diabetic Neuropathy, and Obesity in Children.

      Yuli Y. Kim
      Experienced in Cornelia De Lange Syndrome
      Cardiology
      Experienced in Cornelia De Lange 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 Cornelia De Lange 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.

      Learn about our expert tiers
      Kathleen E. Sweeney
      Experienced in Cornelia De Lange Syndrome
      Family Medicine
      Experienced in Cornelia De Lange Syndrome
      Family Medicine

      UPMC Primary Care

      501 Howard Avenue, 
      Altoona, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Kathleen Sweeney, DO, specializes in family medicine and is certified in family medicine/omt and family medicine by the American Osteopathic Board of Family Physicians. She practices at Altoona Family Physicians and is affiliated with UPMC Altoona. She completed her residency at UPMC Altoona and medical degree at Philadelphia College of Osteopathic Medicine. Dr. Sweeney is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are SHORT Syndrome, Craniofrontonasal Dysplasia, Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome, and GEMSS Syndrome.

      Albert Lee
      Experienced in Cornelia De Lange Syndrome
      Internal Medicine
      Experienced in Cornelia De Lange Syndrome
      Internal Medicine

      Internal Medicine - 33 South 9th Street

      33 South 9th Street, Suite 701, 
      Philadelphia, PA 
      Languages Spoken:
      English, Cantonese, Mandarin
      Offers Telehealth

      Albert Lee is a primary care provider, practicing in Internal Medicine in Philadelphia, Pennsylvania. Dr. Lee is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, Familial Hypertension, and Hypertension.

      Drew M. Johnson
      Experienced in Cornelia De Lange Syndrome
      Thoracic Surgery | Nuclear Medicine
      Experienced in Cornelia De Lange Syndrome
      Thoracic Surgery | Nuclear Medicine

      Jefferson Cardiology - Honickman Center

      1101 Chestnut Street, Floor 9, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Drew Johnson is a Thoracic Surgeon and a Nuclear Medicine provider in Philadelphia, Pennsylvania. Dr. Johnson is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Heart Murmurs, Ventricular Fibrillation, Pulmonary Hypertension, Pulmonary Veno-Occlusive Disease, and Cardiac Ablation. Dr. Johnson is currently accepting new patients.

      Brian C. Jameson
      Advanced in Cornelia De Lange Syndrome
      Endocrinology
      Advanced in Cornelia De Lange Syndrome
      Endocrinology

      Geisinger Wilkes Barre - Endocrinology

      675 Baltimore Drive, 
      Wilkes Barre, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Dr. Jameson is a board-certified and fellowship-trained endocrinologist. His clinical interests include diabetes; thyroid, pituitary and adrenal disorders; and metabolic bone diseases. Dr. Jameson attended the Philadelphia College of Osteopathic Medicine, where he earned his degree in medicine. He completed his residency at Geisinger Medical Center and a fellowship in endocrinology at the State University of New York, Upstate Medical University. Dr. Jameson is certified by the American Board of Internal Medicine in internal medicine and endocrinology, diabetes and metabolism. Dr. Jameson is rated as an Advanced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Postmenopausal Osteoporosis, Maturity Onset Diabetes of the Young, Osteoporosis, and Type 2 Diabetes (T2D).

      Experienced in Cornelia De Lange Syndrome
      Family Medicine
      Experienced in Cornelia De Lange Syndrome
      Family Medicine

      Penn Family Medicine Southern Chester County

      455 West Woodview Road, Suite 100, 
      West Grove, PA 
      Languages Spoken:
      English

      Stephen Naylor is a primary care provider, practicing in Family Medicine in West Grove, Pennsylvania. Dr. Naylor is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Eosinophilia-Myalgia Syndrome, Maturity Onset Diabetes of the Young, Hypertension, and Glucocorticoid-Remediable Aldosteronism.

      Experienced in Cornelia De Lange Syndrome
      Family Medicine
      Experienced in Cornelia De Lange Syndrome
      Family Medicine

      Upmc Community Medicine Inc

      449 N Hermitage Rd, Hermitage Community Medici, 
      Hermitage, PA 
      Languages Spoken:
      English, Hindi, Spanish
      Accepting New Patients
      Offers Telehealth

      Rajvi Patel is a primary care provider, practicing in Family Medicine in Hermitage, Pennsylvania. Dr. Patel is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are Maturity Onset Diabetes of the Young, Hypertension, Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension. Dr. Patel is currently accepting new patients.

      Experienced in Cornelia De Lange Syndrome
      Pediatric Endocrinology
      Experienced in Cornelia De Lange Syndrome
      Pediatric Endocrinology

      Office

      4401 Penn Ave Fl 8, 
      Pittsburgh, PA 
      Languages Spoken:
      English

      Natalie Hecht is a Pediatric Endocrinologist in Pittsburgh, Pennsylvania. Dr. Hecht is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are Rapadilino Syndrome, Seckel Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), and Russell-Silver Dwarfism.

      Experienced in Cornelia De Lange Syndrome
      Pediatric Cardiology
      Experienced in Cornelia De Lange Syndrome
      Pediatric Cardiology

      UPMC Children's Hospital Of Pittsburgh

      4401 Penn Ave, 
      Pittsburgh, PA 
      Languages Spoken:
      English

      Francis Mccaffrey is a Pediatric Cardiologist in Pittsburgh, Pennsylvania. Dr. Mccaffrey is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Cornelia De Lange Syndrome and Tetralogy of Fallot.

      Experienced in Cornelia De Lange Syndrome
      Medical Genetics | Pediatrics
      Experienced in Cornelia De Lange Syndrome
      Medical Genetics | Pediatrics

      University Of Pittsburgh Physicians

      4401 Penn Ave, Suite 3, 
      Pittsburgh, PA 
      Languages Spoken:
      English

      Joshua Owens is a Medical Genetics specialist and a Pediatrics provider in Pittsburgh, Pennsylvania. Dr. Owens is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Primary Ciliary Dyskinesia (PCD), Lateral Meningocele Syndrome, and Joubert Syndrome.

      Experienced in Cornelia De Lange Syndrome
      Medical Genetics | Pediatrics
      Experienced in Cornelia De Lange Syndrome
      Medical Genetics | Pediatrics
      1 Childrens Hospital Dr, Suite 1200 Faculty Pavillion, 
      Pittsburgh, PA 
      Languages Spoken:
      English

      Suneeta Madan-Khetarpal is a Medical Genetics specialist and a Pediatrics provider in Pittsburgh, Pennsylvania. Dr. Madan-Khetarpal is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are 1p36 Deletion Syndrome, Micrognathia, Miller Syndrome, and Mosaicism.

      Advanced in Cornelia De Lange Syndrome
      Family Medicine
      Advanced in Cornelia De Lange Syndrome
      Family Medicine
      1405 Shady Ave, 
      Pittsburgh, PA 
      Languages Spoken:
      English

      Sima Suler is a primary care provider, practicing in Family Medicine in Pittsburgh, Pennsylvania. Dr. Suler is rated as an Advanced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are Mulibrey Nanism, SHORT Syndrome, Sjogren-Larsson Syndrome, and Aarskog Syndrome.

      Advanced in Cornelia De Lange Syndrome
      Family Medicine | Pediatrics | Internal Medicine
      Advanced in Cornelia De Lange Syndrome
      Family Medicine | Pediatrics | Internal Medicine

      The Milton S Hershey Medical Center Physicians Group

      2626 N 3rd St, 
      Harrisburg, PA 
      Languages Spoken:
      English

      Anne Kantner is a primary care provider, practicing in Family Medicine and Internal Medicine in Harrisburg, Pennsylvania. Dr. Kantner is rated as an Advanced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are Dubowitz Syndrome, Craniofrontonasal Dysplasia, GEMSS Syndrome, and Campomelic Dysplasia.

      Experienced in Cornelia De Lange Syndrome
      Endocrinology
      Experienced in Cornelia De Lange Syndrome
      Endocrinology

      Wellspan Medical Group

      296 St Charles Way, 
      York, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Alpa Patel is an Endocrinologist in York, Pennsylvania. Dr. Patel is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are Anaplastic Thyroid Cancer, Thyroid Cancer, Osteoporosis, and Postmenopausal Osteoporosis.

      Experienced in Cornelia De Lange Syndrome
      Medical Genetics | Pediatrics
      Experienced in Cornelia De Lange Syndrome
      Medical Genetics | Pediatrics
      3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Genetics, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Elaine Zackai is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Zackai is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

      Experienced in Cornelia De Lange Syndrome
      Geriatrics | Family Medicine
      Experienced in Cornelia De Lange Syndrome
      Geriatrics | Family Medicine

      Lancaster General Hospital

      555 N Duke St, 
      Lancaster, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Neelofer Sohail is a primary care provider, practicing in Geriatrics and Family Medicine in Lancaster, Pennsylvania. Dr. Sohail is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are Cellulitis, Alzheimer's Disease, Muscle Atrophy, and Delirium. Dr. Sohail is currently accepting new patients.

      Experienced in Cornelia De Lange Syndrome
      Family Medicine
      Experienced in Cornelia De Lange Syndrome
      Family Medicine

      St Vincent Medical Education And Research Institute Inc

      130 N Main St, Union City Family Practice, 
      Union City, PA 
      Experience:
      18+ years
      Languages Spoken:
      English

      David Steves is a primary care provider, practicing in Family Medicine in Union City, Pennsylvania. Dr. Steves has been practicing medicine for over 18 years and is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, Familial Hypertension, and Hypertension.

      Experienced in Cornelia De Lange Syndrome
      Internal Medicine
      Experienced in Cornelia De Lange Syndrome
      Internal Medicine
      1405 Mulberry St, 
      Scranton, PA 
      Languages Spoken:
      English

      Yitzchok Kurtzer is a primary care provider, practicing in Internal Medicine in Scranton, Pennsylvania. Dr. Kurtzer is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Lung Metastases, Coronary Heart Disease, Clear Cell Sarcoma, Endoscopy, and Ureteroscopy.

      Showing 1-20 of 28

      Last Updated: 02/22/2026

      What is the definition of Cornelia De Lange Syndrome?

      Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.

      When should I see a Cornelia De Lange 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 Cornelia De Lange 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 Cornelia De Lange 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 Cornelia De Lange 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 Cornelia De Lange 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 Cornelia De Lange Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Cornelia De Lange 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 Cornelia De Lange 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 Cornelia De Lange 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 Cornelia De Lange 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 Cornelia De Lange Syndrome doctors in Pennsylvania, US?

      Look for the filter feature on the left side of the Cornelia De Lange 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 Cornelia De Lange Syndrome doctor that offers video calls?

      Look for the filter feature on the left-side of the Cornelia De Lange 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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