The 20 Best Schwartz-Jampel Syndrome Doctors in The United States

Find the Top Schwartz-Jampel Syndrome Experts and Specialists

Last Updated: 11/08/2026

Save doctors for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Already have a doctor?
Find A Second Opinion

MediFind found 182 doctor with experience in Schwartz-Jampel Syndrome near The United States. Of these, 160 are Experienced, 17 are Advanced, 4 are Distinguished and 1 are Elite.

Location
LocationClose
182 providers found
    Elite in Schwartz-Jampel Syndrome
    Medical Genetics
    Elite in Schwartz-Jampel Syndrome
    Medical Genetics
    Referral may be required

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Languages Spoken:
    English
    Accepting New Patients

    Michael Bober is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 70 other conditions, according to our data. His clinical expertise encompasses Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Spinal Fusion. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics. Dr. Bober is currently accepting new patients.

    Advanced in Schwartz-Jampel Syndrome
    Orthopedics | Hand Surgery
    Advanced in Schwartz-Jampel Syndrome
    Orthopedics | Hand Surgery
    Referral may be required

    St. Christopher's Hospital For Children

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Scott Kozin is an Orthopedics specialist and a Hand Surgeon practicing medicine in Philadelphia, Pennsylvania. Dr. Kozin is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 53 other conditions, according to our data. His clinical expertise encompasses Brachial Plexopathy, Arthrogryposis Multiplex Congenita, Hereditary Multiple Osteochondromas, Osteotomy, and Tenotomy. Dr. Kozin is board certified in American Board Of Orthopaedic Surgery. Dr. Kozin is currently accepting new patients.

    Distinguished in Schwartz-Jampel Syndrome
    Pediatrics | Medical Genetics
    Distinguished in Schwartz-Jampel Syndrome
    Pediatrics | Medical Genetics
    Referral may be required

    Rubenstein Child Health Building

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

    Julie Hoover-Fong is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Baltimore, Maryland. Dr. Hoover-Fong is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy. Dr. Hoover-Fong is board certified in American Board Of Medical Genetics And Genomics. Dr. Hoover-Fong is currently accepting new patients.

    Learn about our expert tiers
    Experienced in Schwartz-Jampel Syndrome
    Experienced in Schwartz-Jampel Syndrome
    Referral may be required

    Rayus/Foundation Radiology Group

    6400 Brooktree Ct, Ste 350, 
    Wexford, PA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Atul Gupta is a Radiologist practicing medicine in Wexford, Pennsylvania. Dr. Gupta is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Pleural Effusion, Bronchogenic Cyst, Pleurisy, Adenoidectomy, and Endoscopy. Dr. Gupta is board certified in American Board Of Radiology. Dr. Gupta is currently accepting new patients.

    Experienced in Schwartz-Jampel Syndrome
    Pediatric Orthopedics | Orthopedics
    Experienced in Schwartz-Jampel Syndrome
    Pediatric Orthopedics | Orthopedics
    Referral may be required

    St. Christopher's Hospital For Children

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Joshua Pahys is an Orthopedics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Pahys is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphosis, Adolescent Idiopathic Scoliosis, Spinal Fusion, and Osteotomy. Dr. Pahys is board certified in American Board Of Orthopaedic Surgery. Dr. Pahys is currently accepting new patients.

    Experienced in Schwartz-Jampel Syndrome
    Medical Genetics | Pediatrics
    Experienced in Schwartz-Jampel Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    State University Of Iowa

    200 Hawkins Dr, 
    Iowa City, IA 
    Languages Spoken:
    English, French
    Accepting New Patients

    Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, Costello Syndrome, and Spinal Fusion. Dr. Calhoun is currently accepting new patients.

    Experienced in Schwartz-Jampel Syndrome
    Experienced in Schwartz-Jampel Syndrome
    Referral may be required
    222 Piedmont Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English

    Alvin Crawford is an Orthopedics provider practicing medicine in Cincinnati, Ohio. Dr. Crawford is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Neurofibromatosis, Herniated Disk, Spinal Fusion, and Osteotomy.

    Distinguished in Schwartz-Jampel Syndrome
    Medical Genetics | Pediatrics
    Distinguished in Schwartz-Jampel Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    Washington University

    1 Childrens Pl, 
    Saint Louis, MO 
    Languages Spoken:
    English
    Accepting New Patients

    Dorothy Grange is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Saint Louis, Missouri. Dr. Grange is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias. Dr. Grange is currently accepting new patients.

    Distinguished in Schwartz-Jampel Syndrome
    Medical Genetics | Obstetrics and Gynecology | Neonatology
    Distinguished in Schwartz-Jampel Syndrome
    Medical Genetics | Obstetrics and Gynecology | Neonatology
    Referral may be required

    The Regents Of The University Of California

    200 Medical Plaza, 
    Los Angeles, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Deborah Krakow is a Medical Genetics specialist and an Obstetrics and Gynecologist practicing medicine in Los Angeles, California. Dr. Krakow is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 29 other conditions, according to our data. Her clinical expertise encompasses Osteogenesis Imperfecta, Chondrodystrophy, Acromicric Dysplasia, and Acrofacial Dysostosis Catania Type.

    Distinguished in Schwartz-Jampel Syndrome
    Distinguished in Schwartz-Jampel Syndrome
    Referral may be required

    Nemours Children's Hospital Delaware

    1600 Rockland Rd, 
    Wilmington, DE 
    Languages Spoken:
    English
    Accepting New Patients

    William Mackenzie is an Orthopedics provider practicing medicine in Wilmington, Delaware. Dr. Mackenzie is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 60 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, Achondroplasia, Spinal Fusion, and Osteotomy. Dr. Mackenzie is currently accepting new patients.

    Advanced in Schwartz-Jampel Syndrome
    Advanced in Schwartz-Jampel Syndrome
    Referral may be required

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Languages Spoken:
    English
    Accepting New Patients

    Colleen Ditro is an Orthopedics provider practicing medicine in Orlando, Florida. Dr. Ditro is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 56 other conditions, according to our data. Her clinical expertise encompasses Metatropic Dysplasia, Achondroplasia, X-Linked Spondyloepiphyseal Dysplasia Tarda, Spinal Fusion, and Osteotomy. Dr. Ditro is board certified in Pediatric Nursing Certification Board. Dr. Ditro is currently accepting new patients.

    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics
    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics
    Referral may be required
    202 N Yellowstone Dr, 
    Madison, WI 
    Languages Spoken:
    English

    Richard Pauli is a Medical Genetics provider practicing medicine in Madison, Wisconsin. Dr. Pauli is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Spondyloepimetaphyseal Dysplasia Strudwick Type, X-Linked Spondyloepiphyseal Dysplasia Tarda, Adenoidectomy, and Myringotomy.

    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics
    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics
    Referral may be required
    1205 S Grange Ave Ste 510, 
    Sioux Falls, SD 
    Languages Spoken:
    English

    Cornelius Boerkoel is a Medical Genetics provider practicing medicine in Sioux Falls, South Dakota. Dr. Boerkoel is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Snyder-Robinson Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Schwartz-Jampel Syndrome, and Chondrodystrophy.

    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics
    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics
    Referral may be required
    9000 Rockville Pike, Bldg. 10; Rm 10d39, 
    Bethesda, MD 
    Languages Spoken:
    English

    Joan Marini is a Medical Genetics provider practicing medicine in Bethesda, Maryland. Dr. Marini is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Osteogenesis Imperfecta, Kyphomelic Dysplasia, Congenital Bowing of Long Bones, and Brachydactyly Mononen Type.

    Advanced in Schwartz-Jampel Syndrome
    Orthopedics
    Advanced in Schwartz-Jampel Syndrome
    Orthopedics
    Referral may be required

    Children's Hospital Colorado

    13123 E 16th Ave, 
    Aurora, CO 
    Languages Spoken:
    English
    Accepting New Patients

    Klane White is an Orthopedics provider practicing medicine in Aurora, Colorado. Dr. White is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Brachydactyly Mononen Type, Mucopolysaccharidoses (MPS), Osteotomy, and Spinal Fusion. Dr. White is currently accepting new patients.

    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics
    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics
    Referral may be required

    Pediatric Genetics

    81 N Mario Capecchi Dr, 
    Salt Lake City, UT 
    Languages Spoken:
    English, Italian
    Accepting New Patients
    Offers Telehealth

    Lorenzo Botto is a Medical Genetics provider practicing medicine in Salt Lake City, Utah. Dr. Botto is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Omphalocele, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Brachydactyly Mononen Type. Dr. Botto is board certified in American Board Of Pediatrics. Dr. Botto is currently accepting new patients.

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

    Fowzan Alkuraya is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Alkuraya is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 71 other conditions, according to our data. His clinical expertise encompasses Microcephaly, Achalasia Microcephaly Syndrome, Early Infantile Epileptic Encephalopathy, Cortical Dysplasia, and Vitrectomy.

    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics | Pediatrics
    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    Texas Childrens Physician Group

    6651 Main St, 
    Houston, TX 
    Languages Spoken:
    English
    Accepting New Patients

    Lindsay Burrage is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Houston, Texas. Dr. Burrage is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Hypotonia, Argininosuccinic Aciduria, and Achalasia Microcephaly Syndrome. Dr. Burrage is currently accepting new patients.

    Advanced in Schwartz-Jampel Syndrome
    Advanced in Schwartz-Jampel Syndrome
    Referral may be required
    5475 Rings Rd, Suite 300, 
    Dublin, OH 
    Languages Spoken:
    English

    Roy Bisht is a Radiologist practicing medicine in Dublin, Ohio. Dr. Bisht is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Hypochondrogenesis, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Chondrodystrophy, and Osteotomy.

    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics | Pediatrics
    Advanced in Schwartz-Jampel Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    The Association Of Chrmc And University Physicians

    4800 Sand Point Way Ne, 
    Seattle, WA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Michael Bamshad is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Seattle, Washington. Dr. Bamshad is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Distal Arthrogryposis, Distal Arthrogryposis Type 6, Arthrogryposis Multiplex Congenita, and Congenital Contractures. Dr. Bamshad is currently accepting new patients.

    Showing 1-20 of 182

    Last Updated: 11/08/2026

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 

    Read more about our Content Policy.