The 20 Best Desbuquois Syndrome Doctors in The United Kingdom

Find the Top Desbuquois Syndrome Experts and Specialists

Last Updated: 06/30/2026

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MediFind found 6 doctor with experience in Desbuquois Syndrome near The United Kingdom. Of these, 6 are Advanced.

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6 providers found
    Advanced in Desbuquois Syndrome

    Lara Menzies
    Advanced in Desbuquois Syndrome

    Lara Menzies
    Referral may be required
    London, ENG, GB 

    Lara Menzies practices practicing medicine in London, United Kingdom. Ms. Menzies is rated as an Advanced expert by MediFind in the treatment of Desbuquois Syndrome. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Desbuquois Syndrome, Floating-Harbor Syndrome, Hypotonia, and L1 Syndrome.

    Advanced in Desbuquois Syndrome

    Kun Tian
    Advanced in Desbuquois Syndrome

    Kun Tian
    Referral may be required
    Norwich, ENG, GB 

    Kun Tian practices practicing medicine in Norwich, United Kingdom. Tian is rated as an Advanced expert by MediFind in the treatment of Desbuquois Syndrome. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses Desbuquois Syndrome, Polydactyly, Mesothelioma, and Acromicric Dysplasia.

    Advanced in Desbuquois Syndrome

    Jean-marc Schwartz
    Advanced in Desbuquois Syndrome

    Jean-marc Schwartz
    Referral may be required
    Oxford Road, 
    Manchester, ENG, GB 

    Jean-marc Schwartz practices practicing medicine in Manchester, United Kingdom. Schwartz is rated as an Advanced expert by MediFind in the treatment of Desbuquois Syndrome. They are also highly rated in 4 other conditions, according to our data. Their clinical expertise encompasses Multiple Epiphyseal Dysplasia, Mucolipidosis Type 4, Desbuquois Syndrome, Metaphyseal Chondrodysplasia Schmid Type, and Bone Marrow Transplant.

    Learn about our expert tiers
    Advanced in Desbuquois Syndrome

    Alistair D. Calder
    Advanced in Desbuquois Syndrome

    Alistair D. Calder
    Referral may be required

    Great Ormond Street Hospital

    London, ENG, GB 

    Alistair Calder practices practicing medicine in London, United Kingdom. Mr. Calder is rated as an Advanced expert by MediFind in the treatment of Desbuquois Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Pyle Disease, Chondrodystrophy, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

    Advanced in Desbuquois Syndrome

    Louise C. Wilson
    Advanced in Desbuquois Syndrome

    Louise C. Wilson
    Referral may be required

    Great Ormond Street For Children NHS Foundation Trust

    London, ENG, GB 

    Louise Wilson practices practicing medicine in London, United Kingdom. Ms. Wilson is rated as an Advanced expert by MediFind in the treatment of Desbuquois Syndrome. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Frontometaphyseal Dysplasia, Craniosynostosis, Hypotonia, and Metopic Ridge.

    Advanced in Desbuquois Syndrome

    Beth G. Gibson
    Advanced in Desbuquois Syndrome

    Beth G. Gibson
    Referral may be required
    Newcastle Upon Tyne, ENG, GB 

    Beth Gibson practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Ms. Gibson is rated as an Advanced expert by MediFind in the treatment of Desbuquois Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Desbuquois Syndrome, Properdin Deficiency, Atypical Hemolytic Uremic Syndrome (aHUS), and Hemolytic-Uremic Syndrome.

    While we make every effort to provide the best results possible, data is currently limited outside of the United States. Doctors listed may include both clinicians and researchers, and individuals relocate frequently. We recommend contacting doctors directly to confirm their location and areas of focus. Contact information is provided when available. Learn more about our expert tiers.
    Showing 1-6 of 6

    Last Updated: 06/30/2026

    What is the definition of Desbuquois Syndrome?

    Desbuquois syndrome (DBQD) is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has been described in 7 patients originating from Korea and Japan, and is characterized by short stature, joint and minor facial anomalies, together with significant hand anomalies with short bones in the hands, long fingers and advanced bone age. DBQD type 1 and Kim variant are caused by genetic changes in the gene CANT1. Some cases of DBQD type 2 are caused by genetic changes in the gene XYLT1 but in other cases the cause is unknown. It is inherited in an autosomal recessive manner. Type 1 can be associated with severe respiratory problems.

    When should I see a Desbuquois Syndrome doctor in The United Kingdom?

    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 Desbuquois Syndrome doctor in The United Kingdom?

    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 do I find the best Desbuquois Syndrome doctor in The United Kingdom?

    You can find a Desbuquois Syndrome doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank Desbuquois Syndrome doctors in The United Kingdom?

    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 Desbuquois Syndrome doctors in The United Kingdom?

    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 Desbuquois Syndrome doctor in The United Kingdom?

    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 Desbuquois Syndrome doctor search results page. 

    Why is it important to get a second opinion from a different Desbuquois 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 Desbuquois Syndrome doctor in The United Kingdom?

    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 Desbuquois 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 Desbuquois 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 Desbuquois Syndrome doctors in The United Kingdom?

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

    Look for the filter feature on the left-side of the Desbuquois 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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