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    Last Updated: 10/30/2025

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    MediFind found 14 doctor with experience in Desbuquois Syndrome near Maryland, US. Of these, 9 are Experienced and 5 are Advanced.

    Location
    LocationClose
    14 providers found
      Orthopedics
      Orthopedics

      Aligned Orthopedic Partners

      10215 Fernwood Road, Suite 506, 
      Bethesda, MD 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Min Lu is an Orthopedics provider in Bethesda, Maryland. Dr. Lu is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. His top areas of expertise are Osteoarthritis, Tendinitis, Tenosynovitis, Hip Replacement, and Knee Replacement. Dr. Lu is currently accepting new patients.

      Advanced in Desbuquois Syndrome
      Medical Genetics | Pediatrics
      Advanced in Desbuquois Syndrome
      Medical Genetics | Pediatrics

      Johns Hopkins University

      600 N Wolf St, 
      Baltimore, MD 
      Languages Spoken:
      English
      Accepting New Patients

      Julie Hoover-Fong is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Hoover-Fong is rated as an Advanced provider by MediFind in the treatment of Desbuquois Syndrome. His top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy. Dr. Hoover-Fong is currently accepting new patients.

      Advanced in Desbuquois Syndrome
      Obstetrics and Gynecology | Neonatology
      Advanced in Desbuquois Syndrome
      Obstetrics and Gynecology | Neonatology
      600 N Wolfe St, Johns Hopkins Center For Fetal Therapy, Nelson 228, 
      Baltimore, MD 
      Languages Spoken:
      English

      Ahmet Baschat is an Obstetrics and Gynecologist and a Neonatologist in Baltimore, Maryland. Dr. Baschat is rated as an Advanced provider by MediFind in the treatment of Desbuquois Syndrome. His top areas of expertise are Twin-To-Twin Transfusion Syndrome, Intrauterine Growth Restriction, Bilateral Renal Agenesis Dominant Type, Diaphragmatic Hernia, and Endoscopy.

      Learn about our expert tiers
      Advanced in Desbuquois Syndrome
      Obstetrics and Gynecology
      Advanced in Desbuquois Syndrome
      Obstetrics and Gynecology

      Johns Hopkins University

      600 N Wolf St, 
      Baltimore, MD 
      Languages Spoken:
      English
      Accepting New Patients

      Karin Blakemore is an Obstetrics and Gynecologist in Baltimore, Maryland. Dr. Blakemore is rated as an Advanced provider by MediFind in the treatment of Desbuquois Syndrome. Her top areas of expertise are HELLP Syndrome, Desbuquois Syndrome, Atypical Hemolytic Uremic Syndrome (aHUS), and Hypochondroplasia. Dr. Blakemore is currently accepting new patients.

      Advanced in Desbuquois Syndrome
      Advanced in Desbuquois Syndrome
      2401 W Belvedere Ave, 
      Baltimore, MD 
      Languages Spoken:
      English

      Guney Yilmaz is an Orthopedics provider in Baltimore, Maryland. Dr. Yilmaz is rated as an Advanced provider by MediFind in the treatment of Desbuquois Syndrome. His top areas of expertise are Multiple Epiphyseal Dysplasia, Collins Pope Syndrome, Brachydactyly Type B, Osteotomy, and Tenotomy.

      Advanced in Desbuquois Syndrome
      Advanced in Desbuquois Syndrome
      2401 W . Belvedere Avenue, Rubin Institute For Advanced Orthopedics, 
      Baltimore, MD 
      Languages Spoken:
      English
      Accepting New Patients

      Shawn Standard is an Orthopedics provider in Baltimore, Maryland. Dr. Standard is rated as an Advanced provider by MediFind in the treatment of Desbuquois Syndrome. His top areas of expertise are Congenital Femoral Deficiency, Legg-Calve-Perthes Disease (LCPD), Achondroplasia, Absence of Tibia, and Osteotomy. Dr. Standard is currently accepting new patients.

      Experienced in Desbuquois Syndrome
      Experienced in Desbuquois Syndrome

      Johns Hopkins University

      4940 Eastern Ave, 
      Baltimore, MD 
      Languages Spoken:
      English
      Offers Telehealth

      Michael Streiff is a Hematologist in Baltimore, Maryland. Dr. Streiff is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. His top areas of expertise are Venous Thromboembolism (VTE), Deep Vein Thrombosis, Pulmonary Embolism, Pancreaticoduodenectomy, and Bone Marrow Aspiration.

      Experienced in Desbuquois Syndrome
      Experienced in Desbuquois Syndrome
      6565 N Charles St, Suite 210, 
      Baltimore, MD 
      Languages Spoken:
      English

      Ruth Kantor is an Oncologist in Baltimore, Maryland. Dr. Kantor is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. Her top areas of expertise are Opsismodysplasia, Greenberg Dysplasia, Multiple Synostoses Syndrome 1, and Singleton-Merten Syndrome.

      Experienced in Desbuquois Syndrome
      Pediatric Allergy and Immunology | Pediatrics
      Experienced in Desbuquois Syndrome
      Pediatric Allergy and Immunology | Pediatrics

      Johns Hopkins University

      600 N Wolf St, 
      Baltimore, MD 
      Languages Spoken:
      English
      Accepting New Patients

      Howard Lederman is a Pediatric Allergy and Immunologist and a Pediatrics provider in Baltimore, Maryland. Dr. Lederman is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. His top areas of expertise are Common Variable Immune Deficiency, X-Linked Agammaglobulinemia, Immunodeficiency with Hyper IgM Type 1, and Hyper IgE Syndrome. Dr. Lederman is currently accepting new patients.

      Experienced in Desbuquois Syndrome
      Medical Genetics
      Experienced in Desbuquois Syndrome
      Medical Genetics
      9000 Rockville Pike Bldg 10, Rm 13c103c, 
      Bethesda, MD 
      Languages Spoken:
      English

      Luis Franco is a Medical Genetics provider in Bethesda, Maryland. Dr. Franco is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. His top area of expertise is Desbuquois Syndrome.

      Experienced in Desbuquois Syndrome
      Experienced in Desbuquois Syndrome
      600 N Wolfe St, Cmsc 2-124, 
      Baltimore, MD 
      Languages Spoken:
      English

      Jennifer Johnston is a Pediatrics provider in Baltimore, Maryland. Dr. Johnston is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. Her top areas of expertise are Cerebral Hypoxia, Pycnodysostosis, Desbuquois Syndrome, and Opsismodysplasia.

      Experienced in Desbuquois Syndrome
      Experienced in Desbuquois Syndrome

      Kennedy Krieger Associates

      707 N Broadway, 
      Baltimore, MD 
      Languages Spoken:
      English
      Accepting New Patients

      Jessica De Curtis Fernandez is a Physiatrist in Baltimore, Maryland. Dr. De Curtis Fernandez is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. Her top areas of expertise are Osteogenesis Imperfecta, Cerebral Palsy, Spasticity, and Spastic Diplegia Infantile Type. Dr. De Curtis Fernandez is currently accepting new patients.

      Experienced in Desbuquois Syndrome
      Experienced in Desbuquois Syndrome

      Suburban/nrh Medical Rehabilitation Inc

      6410 Rockledge Dr, Suite 600, 
      Bethesda, MD 
      Languages Spoken:
      English

      Debbie Litman is a Rheumatologist in Bethesda, Maryland. Dr. Litman is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. Her top areas of expertise are Postmenopausal Osteoporosis, Osteoporosis, Melorheostosis, and Melorheostosis with Osteopoikilosis.

      Experienced in Desbuquois Syndrome
      Pulmonary Medicine
      Experienced in Desbuquois Syndrome
      Pulmonary Medicine

      Johns Hopkins University

      601 N Caroline St, 
      Baltimore, MD 
      Languages Spoken:
      English
      Accepting New Patients

      Christian Merlo is a Pulmonary Medicine provider in Baltimore, Maryland. Dr. Merlo is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. His top areas of expertise are Cystic Fibrosis, Secondary Immunodeficiency (SID), Aspergillosis, Lung Transplant, and Endoscopy. Dr. Merlo is currently accepting new patients.

      Showing 1-14 of 14

      Last Updated: 10/30/2025

      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 Maryland, 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 Desbuquois Syndrome doctor in Maryland, 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 Desbuquois Syndrome doctors in Maryland, 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 Desbuquois Syndrome doctors in Maryland, 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 Desbuquois Syndrome doctor in Maryland, 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 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 Maryland, 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 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 Maryland, US?

      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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