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    Last Updated: 10/30/2025

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    MediFind found 9 doctor with experience in Schwartz-Jampel Syndrome near Massachusetts, US. Of these, 7 are Experienced, 1 are Advanced and 1 are Distinguished.

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    9 providers found
      Distinguished in Schwartz-Jampel Syndrome
      Distinguished in Schwartz-Jampel Syndrome

      Children's Hospital Radiology Foundation, Inc.

      300 Longwood Ave, 
      Boston, MA 
      Experience:
      18+ years
      Languages Spoken:
      English

      Atsuhiko Handa is a Radiologist in Boston, Massachusetts. Dr. Handa has been practicing medicine for over 18 years and is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Spondyloepiphyseal Dysplasia Congenita, Chondrodystrophy, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Bone Marrow Aspiration.

      Advanced in Schwartz-Jampel Syndrome
      Pediatrics | Medical Genetics
      Advanced in Schwartz-Jampel Syndrome
      Pediatrics | Medical Genetics
      300 Longwood Ave, Fegan 10, 
      Boston, MA 
      Languages Spoken:
      English

      Fowzan Alkuraya is a Pediatrics specialist and a Medical Genetics provider in Boston, Massachusetts. Dr. Alkuraya is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Early Infantile Epileptic Encephalopathy, Cortical Dysplasia, and Vitrectomy.

      Experienced in Schwartz-Jampel Syndrome
      Experienced in Schwartz-Jampel Syndrome
      300 Longwood Ave, Children's Hosp. - Orthopaedics, 
      Boston, MA 
      Languages Spoken:
      English

      Samantha Spencer is an Orthopedics provider in Boston, Massachusetts. Dr. Spencer is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Acromicric Dysplasia, Brachydactyly Mononen Type, Chondrodystrophy, Achondroplasia, and Osteotomy.

      Learn about our expert tiers
      Experienced in Schwartz-Jampel Syndrome
      Pediatric Orthopedics | Orthopedics | Hand Surgery
      Experienced in Schwartz-Jampel Syndrome
      Pediatric Orthopedics | Orthopedics | Hand Surgery
      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Donald Bae is a Pediatric Orthopedics specialist and an Orthopedics provider in Boston, Massachusetts. Dr. Bae is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Osteochondritis Dissecans, Syndactyly Type 2, Syndactyly, Bone Graft, and Osteotomy. Dr. Bae is currently accepting new patients.

      Experienced in Schwartz-Jampel Syndrome
      Experienced in Schwartz-Jampel Syndrome

      Children's Orthopaedic Surgery Foundation Inc

      300 Longwood Ave, Bch3446, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Carley Vuillermin is an Orthopedics provider in Boston, Massachusetts. Dr. Vuillermin is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Hereditary Multiple Osteochondromas, Osteochondroma, Accessory Navicular Bone, Bone Graft, and Fasciotomy. Dr. Vuillermin is currently accepting new patients.

      Experienced in Schwartz-Jampel Syndrome
      Experienced in Schwartz-Jampel Syndrome
      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English

      Frederic Shapiro is an Orthopedics provider in Boston, Massachusetts. Dr. Shapiro is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Legg-Calve-Perthes Disease (LCPD), Klippel-Feil Syndrome, Frontonasal Dysplasia Klippel Feil Syndrome, and Osteogenesis Imperfecta.

      Experienced in Schwartz-Jampel Syndrome
      Experienced in Schwartz-Jampel Syndrome
      44 Washigton Street #217, 
      Brookline, MA 
      Languages Spoken:
      English

      Kshitij Chaudhary is an Orthopedics provider in Brookline, Massachusetts. Dr. Chaudhary is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are CHST3-Related Skeletal Dysplasia, Epidural Lipomatosis, Familial Multiple Lipomatosis, Spinal Fusion, and Laminectomy.

      Experienced in Schwartz-Jampel Syndrome
      Pediatric Radiology | Radiology | Interventional Radiology
      Experienced in Schwartz-Jampel Syndrome
      Pediatric Radiology | Radiology | Interventional Radiology

      Children's Hospital Radiology Foundation, Inc.

      300 Longwood Ave, 
      Boston, MA 
      Experience:
      37+ years
      Languages Spoken:
      English

      Maria Calvo is a Pediatric Radiologist and a Radiologist in Boston, Massachusetts. Dr. Calvo has been practicing medicine for over 37 years and is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Kniest Dysplasia, Hydranencephaly, Hydrocephalus, and Anencephaly.

      Experienced in Schwartz-Jampel Syndrome
      Medical Genetics | Pediatrics
      Experienced in Schwartz-Jampel Syndrome
      Medical Genetics | Pediatrics

      The General Hospital Corporation

      55 Fruit St, 
      Boston, MA 
      Experience:
      17+ years
      Languages Spoken:
      English
      Accepting New Patients

      Frances High is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. High has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Cerebellar Hypoplasia, Weaver Syndrome, Hernia, and Hypotonia. Dr. High is currently accepting new patients.

      Showing 1-9 of 9

      Last Updated: 10/30/2025

      What is the definition of Schwartz-Jampel Syndrome?

      Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely.

      When should I see a Schwartz-Jampel Syndrome doctor in Massachusetts, 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 Schwartz-Jampel Syndrome doctor in Massachusetts, 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 Schwartz-Jampel Syndrome doctors in Massachusetts, 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 Schwartz-Jampel Syndrome doctors in Massachusetts, 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 Schwartz-Jampel Syndrome doctor in Massachusetts, 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 Schwartz-Jampel Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Schwartz-Jampel 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 Schwartz-Jampel Syndrome doctor in Massachusetts, 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 Schwartz-Jampel 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 Schwartz-Jampel 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 Schwartz-Jampel Syndrome doctors in Massachusetts, US?

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

      Look for the filter feature on the left-side of the Schwartz-Jampel 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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