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    Last Updated: 02/22/2026

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    MediFind found 1762 doctor with experience in Johanson-Blizzard Syndrome. Of these, 1510 are Experienced, 241 are Advanced, 10 are Distinguished and 1 are Elite.

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    1,762 providers found
      Elite in Johanson-Blizzard Syndrome
      Elite in Johanson-Blizzard Syndrome
      Magdeburg, ST, DE 

      Maja Sukalo practices in Magdeburg, Germany. Ms. Sukalo is rated as an Elite expert by MediFind in the treatment of Johanson-Blizzard Syndrome. Her top areas of expertise are Johanson-Blizzard Syndrome, Ectodermal Dysplasia Neurosensory Deafness, Ectodermal Dysplasias, and Clouston Syndrome.

      Advanced in Johanson-Blizzard Syndrome
      Advanced in Johanson-Blizzard Syndrome

      ETSU Physicians & Associates- Pediatrics

      325 N State Of Franklin Rd, 
      Johnson City, TN 
      Languages Spoken:
      English

      . Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

      Philip L. Goolsby
      Experienced in Johanson-Blizzard Syndrome
      Family Medicine
      Experienced in Johanson-Blizzard Syndrome
      Family Medicine

      Aurora Family Medicine

      1565 Allouez Ave, 
      Green Bay, WI 
      Experience:
      44+ years
      Languages Spoken:
      English

      Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby has been practicing medicine for over 44 years and is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Schnitzler Syndrome, Monoclonal Gammopathy of Undetermined Significance (MGUS), Movement Disorders, and Parkinson's Disease.

      Learn about our expert tiers
      David S. Stolp
      Experienced in Johanson-Blizzard Syndrome
      Family Medicine
      Experienced in Johanson-Blizzard Syndrome
      Family Medicine

      Aurora Family Medicine

      2424 S 90th St, Ste 200, 
      West Allis, WI 
      Languages Spoken:
      English

      David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Cerebral Palsy, Nijmegen Breakage Syndrome, Ruvalcaba Syndrome, and Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.

      Jacob C. Hartz
      Experienced in Johanson-Blizzard Syndrome
      Pediatrics | Pediatric Cardiology
      Experienced in Johanson-Blizzard Syndrome
      Pediatrics | Pediatric Cardiology

      Atrium Health Levine Children's HEARTest Yard Congenital Heart Center

      1001 Blythe Blvd., Suite 500, 
      Charlotte, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Jacob Hartz is a Pediatrics specialist and a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Hartz is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Homozygous Familial Hypercholesterolemia (HoFH), High Cholesterol, Defective Apolipoprotein B-100, Familial Hypertriglyceridemia, and Pacemaker Implantation. Dr. Hartz is currently accepting new patients.

      Experienced in Johanson-Blizzard Syndrome
      Experienced in Johanson-Blizzard Syndrome

      Neuromonitoring Associates

      9811 W Charleston Blvd, # 2641, 
      Las Vegas, NV 
      Languages Spoken:
      English

      . Dr. Thomas is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Seizures, Cervical Myelopathy, Memory Loss, and Generalized Tonic-Clonic Seizure.

      Distinguished in Johanson-Blizzard Syndrome
      Cardiology
      Distinguished in Johanson-Blizzard Syndrome
      Cardiology

      Stanford Hospital And Clinics

      300 Pasteur Dr, 
      Stanford, CA 
      Languages Spoken:
      English

      Joshua Spin is a Cardiologist in Stanford, California. Dr. Spin is rated as a Distinguished provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Abdominal Aortic Aneurysm (AAA), Thoracic Aortic Aneurysm, Inappropriate Sinus Tachycardia (IST), Familial Ventricular Tachycardia, and Pacemaker Implantation.

      Donald J. Weaver
      Experienced in Johanson-Blizzard Syndrome
      Pediatric Nephrology
      Experienced in Johanson-Blizzard Syndrome
      Pediatric Nephrology

      Atrium Health Levine Children's Nephrology

      1001 Blythe Blvd., Suite C, 
      Charlotte, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Donald Weaver is a Pediatric Nephrologist in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is currently accepting new patients.

      Sunil Pauwaa
      Experienced in Johanson-Blizzard Syndrome
      Advanced Heart Failure and Transplant Cardiology
      Experienced in Johanson-Blizzard Syndrome
      Advanced Heart Failure and Transplant Cardiology

      Advocate Heart Institute

      10837 S Cicero Ave, Ste 200, 
      Oak Lawn, IL 
      Languages Spoken:
      English

      Sunil Pauwaa is an Advanced Heart Failure and Transplant Cardiologist in Oak Lawn, Illinois. Dr. Pauwaa is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Heart Failure, Pulmonary Veno-Occlusive Disease, Pulmonary Hypertension, Hypertensive Heart Disease, and Heart Transplant.

      David B. Everman
      Distinguished in Johanson-Blizzard Syndrome
      Medical Genetics
      Distinguished in Johanson-Blizzard Syndrome
      Medical Genetics

      Greenwood Genetic Center– Greenville

      14 Edgewood Drive, 
      Greenville, SC 
      Languages Spoken:
      English
      Accepting New Patients

      David Everman is a Medical Genetics provider in Greenville, South Carolina. Dr. Everman is rated as a Distinguished provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Johanson-Blizzard Syndrome, Chromosome 2p Duplication, Aplasia Cutis Congenita, and Ectodermal Dysplasias. Dr. Everman is currently accepting new patients.

      Michael N. Singh
      Advanced in Johanson-Blizzard Syndrome
      Advanced in Johanson-Blizzard Syndrome

      Brigham And Women's Hospital, Heart And Vascular Center

      70 Francis Street, Carl J. And Ruth Shapiro Cardiovascular Center, 
      Boston, MA 
      Languages Spoken:
      English

      Dr. Michael N. Singh is a cardiovascular medicine specialist at Brigham and Women’s Hospital (BWH) and an instructor in pediatrics at Harvard Medical School.Dr. Singh received his medical degree from Loma Linda University School of Medicine. He completed a combined residency in medicine/pediatrics at Medical College of Ohio Hospital (now The University of Toledo Medical Center). Dr. Singh then completed a cardiology fellowship at Baystate Medical Center and fellowships in adult congenital heart disease, congenital echocardiography, Marfan syndrome/related connective tissue disorders, and pulmonary hypertension at BWH and Boston Children's Hospital. He is board certified in internal medicine, pediatrics and cardiovascular disease.Dr. Singh’s clinical interests include congenital heart disease, connective tissue disorder and Marfan syndrome. The author of 11 peer-reviewed publications, his research focuses on Marfan syndrome, adults with congenital heart disease and aortic valve dysfunction. Dr. Singh is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Marfan Syndrome, Bicuspid Aortic Valve, Congenital Heart Disease (CHD), and Truncus Arteriosus.

      Hal C. Dietz
      Advanced in Johanson-Blizzard Syndrome
      Pediatrics | Medical Genetics
      Advanced in Johanson-Blizzard Syndrome
      Pediatrics | Medical Genetics

      Rubenstein Child Health Building

      200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Harry “Hal” Dietz is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research. Recognized as the world’s leading authority on Marfan syndrome, Dr. Dietz conducted genomic mapping and research on therapeutic agents for deficiencies in the genetic protein fibrillin, which is linked to Marfan syndrome. His research contributions have made diagnosis of the condition patient-specific and accurate. He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association. Dr. Dietz is an ad hoc reviewer for 19 different organizations, including the American Journal of Cardiology, the Archives of Pediatric and Adolescent Medicine, and the Journal of Clinical Investigation. Over more than two decades, Dr. Dietz has mentored 75 predoctoral and postdoctoral researchers. He has authored 282 original publications in peer-reviewed journals, 25 textbook chapters, and 239 abstracts, and has also delivered more than 440 lectures on Marfan syndrome and related genetic disorders. Dr. Dietz completed his B.S. at Duke University and received his M.D. from the SUNY Upstate School of Medicine. He completed a pediatric residency and a cardiology fellowship at Johns Hopkins University before joining the faculty in 1992. Dr. Dietz is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Snyder-Robinson Syndrome, Abruzzo-Erickson Syndrome, Costello Syndrome, and WAGR Syndrome.

      Andrzej Dlugosz
      Advanced in Johanson-Blizzard Syndrome
      Advanced in Johanson-Blizzard Syndrome

      University Of Michigan Medical Center

      1500 E Medical Center Dr, 
      Ann Arbor, MI 
      Languages Spoken:
      English
      Offers Telehealth

      Andrzej Dlugosz is a Dermatologist in Ann Arbor, Michigan. Dr. Dlugosz is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Cicatricial Pemphigoid, Pemphigus, Bullous Pemphigoid, and Pemphigus Vulgaris.

      Mary Brickner
      Advanced in Johanson-Blizzard Syndrome
      Advanced in Johanson-Blizzard Syndrome

      University Of Texas Southwestern Medical Center

      5323 Harry Hines Blvd, 
      Dallas, TX 
      Languages Spoken:
      English

      Mary Brickner is a Cardiologist in Dallas, Texas. Dr. Brickner is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. Her top areas of expertise are Bicuspid Aortic Valve, Atrioventricular Septal Defect, Partial Atrioventricular Canal, Endocardial Cushion Defect, and Pacemaker Implantation.

      John H. Stock
      Advanced in Johanson-Blizzard Syndrome
      Pediatric Cardiology | Pediatrics
      Advanced in Johanson-Blizzard Syndrome
      Pediatric Cardiology | Pediatrics

      Pediatric Cardiac Care Of Arizona

      7505 S McClintock Dr, Ste 103, 
      Tempe, AZ 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      My philosophy is to educate and empower the patient and family with education. When we understand our own health, we can better care for ourselves and our loved ones.  This allows us to work as a team.  We listen, and provide compassionate, quality driven, contemporary management.  Our team is dedicated to providing the best services to you and your family.  The staff in our office choose to work with families and patients of all ages.  Your time is important, we will treat you with respect, dignity, compassion, and professionalism.I am board certified in Pediatric Cardiology. Those are not just words, but require specific training and testing to remain Board certified.  I have requirements to understand and utilize quality improvement measures and I maintain proficiency in education and training. Dr. Stock is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Ventricular Septal Defects, Pulmonary Valve Stenosis, Pulmonary Supravalvular Stenosis, and Heart Murmurs.

      Henry Wong
      Advanced in Johanson-Blizzard Syndrome
      Dermatology
      Advanced in Johanson-Blizzard Syndrome
      Dermatology

      Uc San Diego Health-La Jolla

      8899 University Center Ln, 
      San Diego, CA 
      Languages Spoken:
      English

      Henry Wong is a Dermatologist in San Diego, California. Dr. Wong is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Cutaneous T-Cell Lymphoma (CTCL), T-Cell Lymphoma, Sezary Syndrome, and Pyoderma Gangrenosum.

      Drew Baldwin
      Advanced in Johanson-Blizzard Syndrome
      Interventional Cardiology | Cardiology
      Advanced in Johanson-Blizzard Syndrome
      Interventional Cardiology | Cardiology

      Virginia Mason Medical Center

      1100 Ninth Avenue, 
      Seattle, WA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Drew Baldwin, MD, is a board-certified cardiologist specialized in cardiovascular disease and interventional cardiology. His interests include coronary artery disease, preventive cardiology, cholesterol management, cardiac rehabilitation, echocardiography, nuclear cardiology, peripheral vascular disease, valvular heart disease, and transcatheter aortic valve replacement.Dr. Baldwin listens to each patient's unique story interpreting their health issues and addressing them with the arsenal of advanced evidence-based treatment options now available. He makes a point to educate patients about their conditions and the treatments available using terms they can understand.Dr. Baldwin is a Fellow of both the American College of Cardiology and Cardiovascular Angiography and Intervention.Away from work he enjoys literature arts and the outdoors. Dr. Baldwin is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Coronary Heart Disease, Angina, Atherosclerosis, and Heart Failure with Preserved Ejection Fraction (HFpEF).

      Elia P. Knight
      Advanced in Johanson-Blizzard Syndrome
      Advanced in Johanson-Blizzard Syndrome

      Cleveland Clinic Main Campus

      9500 Euclid Avenue, 
      Cleveland, OH 
      Languages Spoken:
      English

      Elia Knight is a Pediatrics provider in Cleveland, Ohio. Dr. Knight is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. Her top areas of expertise are CDKL5 Deficiency Disorder, West Syndrome, Seizures, and Epilepsy.

      Experienced in Johanson-Blizzard Syndrome
      Pediatric Neurology | Neurology | Sleep Medicine
      Experienced in Johanson-Blizzard 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 Johanson-Blizzard Syndrome. His top areas of expertise are Seizures, Generalized Tonic-Clonic Seizure, Cramp-Fasciculation Syndrome, and GAPO Syndrome.

      Experienced in Johanson-Blizzard Syndrome
      Oncology | Medical Genetics
      Experienced in Johanson-Blizzard Syndrome
      Oncology | Medical Genetics

      Stanford Health Care

      300 Pasteur Dr, 
      Stanford, CA 
      Languages Spoken:
      English

      James Ford is an Oncologist and a Medical Genetics provider in Stanford, California. Dr. Ford is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Pancreatic Cancer, Breast Cancer, Familial Adenomatous Polyposis, and Stomach Cancer.

      Showing 1-20 of 1,762

      Last Updated: 02/22/2026

      What is the definition of Johanson-Blizzard Syndrome?

      Johanson-Blizzard syndrome (JBS) is a very rare condition that affects multiple parts of the body. The severity, signs and symptoms of JBS may vary among affected individuals. Characteristic features include intestinal malabsorption of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to thrive, contributing to short stature; abnormalities of permanent teeth; distinctive skull and facial features; and/or varying degrees of intellectual disability. JBS can be caused by changes in the UBR1 gene and is inherited in an autosomal recessive manner.

      When should I see a Johanson-Blizzard Syndrome doctor near me?

      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 Johanson-Blizzard Syndrome doctor near me?

      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 Johanson-Blizzard Syndrome doctors near me?

      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 Johanson-Blizzard Syndrome doctors near me?

      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 Johanson-Blizzard Syndrome doctor near me?

      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 Johanson-Blizzard Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Johanson-Blizzard 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 Johanson-Blizzard Syndrome doctor near me?

      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 Johanson-Blizzard 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 Johanson-Blizzard 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 Johanson-Blizzard Syndrome doctors near me?

      Look for the filter feature on the left side of the Johanson-Blizzard 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 Johanson-Blizzard Syndrome doctor that offers video calls?

      Look for the filter feature on the left-side of the Johanson-Blizzard 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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