The 20 Best Desbuquois Syndrome Doctors Near Me in Maryland, US

Find the Top Desbuquois Syndrome Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 12 doctor with experience in Desbuquois Syndrome near Maryland, US. Of these, 8 are Experienced and 4 are Advanced.

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12 providers found
    Advanced in Desbuquois Syndrome
    Pediatrics | Medical Genetics
    Advanced in Desbuquois 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. Julie Hoover-Fong is a Professor of Genetic Medicine and Pediatrics and Director of the Greenberg Center for Skeletal Dysplasias at Johns Hopkins University. Dr. Hoover-Fong holds a bachelor’s degree in Human Nutrition from The Ohio State University, where she also completed her medical degree. She received her Ph.D. in the Graduate Training Program in Clinical Investigation at the Johns Hopkins University School of Medicine and Bloomberg School of Public Health. Dr. Hoover-Fong completed a pediatric internship and residency at Washington University in St. Louis and a fellowship in medical genetics at Johns Hopkins University in Baltimore. She joined the Johns Hopkins University faculty in 2002 and progressed to Professor of Genetic Medicine and Pediatrics in 2019. She practices and oversees the clinical operations, research and educational ventures for the patients, families and healthcare providers served by the Greenberg Center. Her clinical team develops and improves diagnostic and treatment guidelines for comprehensive care of patients with all types of bone conditions including dwarfism, orofacial clefting, craniosynostosis and more. Dr. Hoover-Fong also mentors and teaches medical students, residents and genetic medicine trainees. As an active clinical researcher, Dr. Hoover-Fong is the Principal Investigator of multiple global clinical trials for achondroplasia, the first multi-center, investigator-initiated natural history study for achondroplasia, and multiple clinical studies for patients with orofacial clefting, hypophosphatasia and other conditions. She is also a co-investigator on the ELSI and Phenotype Review Committees for the Mendel Project, a whole exome sequencing venture to identify the genetic cause of Mendelian conditions. From an institutional service perspective, Dr. Hoover-Fong serves on the Johns Hopkins Associate Professor Promotions Committee and the Advisory Committee for the Graduate Training Program in Clinical Investigation. She serves on the Medical Advisory Board of the Little People of America, is a member of the Miller-Coulson Academy of Clinical Excellence at Johns Hopkins University and is a charter member of the International Skeletal Dysplasia Management Consortium, publishing best practice guidelines for patients with skeletal dysplasias. Dr. Hoover is rated as an Advanced provider by MediFind in the treatment of Desbuquois Syndrome. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Rhizomelic Syndrome, Achondroplasia, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy. Dr. Hoover is board certified in American Board Of Medical Genetics And Genomics.

    Advanced in Desbuquois Syndrome
    Advanced in Desbuquois Syndrome

    The Johns Hopkins Hospital

    1800 Orleans Street, 
    Baltimore, MD 
    Languages Spoken:
    English, German, Turkish

    Dr. Ahmet Baschat is director of the Center for Fetal Therapy and professor in the Johns Hopkins Medicine Department of Gynecology and Obstetrics. His areas of clinical expertise include prenatal diagnosis and therapy of a wide range of fetal conditions including congenital diaphragmatic hernia, intrauterine growth restriction, twin-to-twin transfusion syndrome (TTTS), as well as other complications of monochorionic twin pregnancies. Dr. Baschat received his undergraduate and medical degrees from The Royal College of Surgeons in Ireland. He earned his doctorate in medicine (Dr. Med) from the University of Lübeck, where he also completed a residency in obstetrics and gynecology. Dr. Baschat also completed residencies at Newton-Wellesley Hospital and at University of Maryland Medical Center. He performed a fellowship in maternal-fetal medicine at University of Maryland Medical Center and went on to develop its Center for Advanced Fetal Care. Dr. Baschat joined the Johns Hopkins faculty in 2014. Prior to joining Johns Hopkins, Dr. Baschat was professor and director of Maternal-Fetal Medicine and the Section of Fetal Therapy at the University of Maryland School of Medicine. Dr. Baschat’s research interests include interventions and management techniques for fetal growth restriction and placental insufficiency. He has also done extensive research on the use of high resolution prenatal ultrasound techniques, including Doppler and fetal echocardiography, to predict and detect fetal complications. Dr. Baschat serves on a variety of boards and is a member of the American Congress of Obstetricians and Gynecologists (ACOG), the International Society of Ultrasound in Obstetrics & Gynecology and the International Fetal Medicine and Surgery Society. He has been recognized with several awards and honors, including the 2010 Award for Excellence in Research by the Society for Maternal-Fetal Medicine. Dr. Baschat’s passion for developing an individualized care plan for each of his patients has been the hallmark of his practice. Dr. Baschat is rated as an Advanced provider by MediFind in the treatment of Desbuquois Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Twin-To-Twin Transfusion Syndrome, Intrauterine Growth Restriction, Bilateral Renal Agenesis Dominant Type, Diaphragmatic Hernia, and Endoscopy. Dr. Baschat is board certified in American Board Of Obstetrics And Gynecology.

    Advanced in Desbuquois Syndrome
    Medical Genetics | Neonatology
    Advanced in Desbuquois Syndrome
    Medical Genetics | Neonatology

    Johns Hopkins Health Care & Surgery Center - Green Spring Station, Lutherville

    10753 Falls Road, Pavilion II Suite 245, Pavilion II Suite 245, 
    Lutherville, MD 
    Languages Spoken:
    English

    Karin Blakemore, M.D., is the director of prenatal genetics at the prenatal diagnostic center in the Johns Hopkins Department of Gynecology and Obstetrics, and she is a member of the McKusick-Nathans Institute of Genetic Medicine. Her areas of clinical expertise include fetal imaging and fetal genetic disorders. Dr. Blakemore also serves as a professor of oncology and of gynecology and obstetrics in the Johns Hopkins University School of Medicine. Dr. Blakemore earned her medical degree from the Medical College of Ohio at Toledo. She completed her residency at New York University Medical Center and performed fellowships in genetics at Yale University School of Medicine and in maternal and fetal medicine at Washington University School of Medicine. Her research interests include Fetal Genetic Disorders; Prenatal Diagnosis and Fetal Treatment; In Utero Hematopoietic Stem Cell Transplantation; Hemoglobinopathies; Red cell and platelet alloimmunization; Intrapartum physiology and outcomes; Placental development and abnormalities. Dr. Blakemore is rated as an Advanced provider 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 HELLP Syndrome, Desbuquois Syndrome, Atypical Hemolytic Uremic Syndrome (aHUS), and Hypochondroplasia. Dr. Blakemore is board certified in American Board Of Obstetrics And Gynecology and Clinical Genetics.

    Learn about our expert tiers
    Experienced in Desbuquois Syndrome
    Experienced in Desbuquois Syndrome

    Rubenstein Child Health Building

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

    Dr. Howard Lederman is a professor of pediatrics at the Johns Hopkins University School of Medicine. He is the director of the Immunodeficiency Clinic, the Pediatric Immunology Laboratory, and the Ataxia-Telangiectasia (A-T) Clinical Center. Dr. Lederman specializes in the evaluation, diagnostic testing and long-term management of patients of all ages who have known or suspected primary immunodeficiency diseases. He is an expert on the use of gamma globulin therapy for a wide variety of disorders. After receiving his M.D. and Ph.D. from the University of Michigan, Dr. Lederman came to Johns Hopkins Children’s Center for a residency in pediatrics, followed by a fellowship in immunology at the Hospital for Sick Children in Toronto. Dr. Lederman’s current research laboratory and clinical research focuses on better understanding and treating patients with ataxia-telangiectasia, a devastating neurological disorder for which there is no cure. He is a member of numerous professional societies, including American Association of Immunologists, the American Society for Microbiology and the Clinical Immunology Society. Dr. Lederman is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Common Variable Immune Deficiency, X-Linked Agammaglobulinemia, Autosomal Dominant Hyper IgE Syndrome, and Hyper IgE Syndrome. Dr. Lederman is board certified in American Board Of Pediatrics.

    Experienced in Desbuquois Syndrome
    Transplant Surgery
    Experienced in Desbuquois Syndrome
    Transplant Surgery

    Johns Hopkins Outpatient Center

    601 North Caroline Street, Floor 7, Floor 7, 
    Baltimore, MD 
    Languages Spoken:
    English

    Dr. Merlo is an internist who specializes in pulmonary and critical care medicine. Dr. Merlo also has clinical expertise in the care of patients with cystic fibrosis as well as clinical expertise in the care of patients with advanced lung disease who may require or have undergone lung transplantation. Dr. Merlo holds a joint appointment in epidemiology at the Johns Hopkins Bloomberg School of Public Health. Dr. Merlo attended the College of the Holy Cross and completed medical school and residency training in internal medicine at Georgetown University. He completed both clinical and research fellowships in pulmonary and critical care medicine at Johns Hopkins, and earned his M.P.H. at the Bloomberg School of Public Health. His research interests include outcomes in lung transplantation and cystic fibrosis, HIV-related pulmonary disease, and outcomes in Osler Weber Rendu. Dr. Merlo serves as the Associate Program Director of Scholarship for the Osler Medical Housestaff Training Program. He has contributed numerous scientific papers and book chapters related to cystic fibrosis and lung transplantation, and his awards include the Harry Shwachman Clinical Investigator Award from the Cystic Fibrosis Foundation. Dr. Merlo is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Cystic Fibrosis, Secondary Immunodeficiency (SID), Aspergillosis, Lung Transplant, and Endoscopy.

    Orthopedics
    Orthopedics

    Aligned Orthopedic Partners

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

    Min Lu is an Orthopedics provider practicing medicine in Bethesda, Maryland. Dr. Lu is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Osteoarthritis, Tendinitis, Tenosynovitis, Hip Replacement, and Knee Replacement.

    Advanced in Desbuquois Syndrome
    Orthopedics
    Advanced in Desbuquois Syndrome
    Orthopedics

    Sinai Hospital Of Baltimore

    2401 W Belvedere Ave, 
    Baltimore, MD 
    Languages Spoken:
    English

    Guney Yilmaz is an Orthopedics provider practicing medicine in Baltimore, Maryland. Dr. Yilmaz is rated as an Advanced provider by MediFind in the treatment of Desbuquois Syndrome. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Multiple Epiphyseal Dysplasia, Collins Pope Syndrome, Brachydactyly Type B, Osteotomy, and Tenotomy.

    Experienced in Desbuquois Syndrome
    Experienced in Desbuquois Syndrome

    Johns Hopkins Hospital

    600 N Wolfe St, 
    Baltimore, MD 
    Languages Spoken:
    English
    Offers Telehealth

    Michael Streiff is a Hematologist practicing medicine in Baltimore, Maryland. Dr. Streiff is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. He is also highly rated in 35 other conditions, according to our data. His clinical expertise encompasses Venous Thromboembolism (VTE), Deep Vein Thrombosis, Pulmonary Embolism, Pancreaticoduodenectomy, and Bone Marrow Aspiration.

    Experienced in Desbuquois Syndrome
    Internal Medicine
    Experienced in Desbuquois Syndrome
    Internal Medicine

    Office

    6565 N Charles St Ste 210, 
    Towson, MD 
    Languages Spoken:
    English

    Ruth Kantor is an Internal Medicine provider practicing medicine in Towson, Maryland. Dr. Kantor is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. Her clinical expertise encompasses Metaphyseal Chondrodysplasia Schmid Type, Kyphomelic Dysplasia, Singleton-Merten Syndrome, and Craniometaphyseal Dysplasia.

    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 practicing medicine in Bethesda, Maryland. Dr. Franco is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. His clinical expertise encompasses Desbuquois Syndrome.

    Experienced in Desbuquois Syndrome
    Experienced in Desbuquois Syndrome

    Kennedy Krieger Institute

    707 N Broadway, 
    Baltimore, MD 
    Languages Spoken:
    English

    Jessica De Curtis Fernandez is a Pediatrics provider practicing medicine in Baltimore, Maryland. Dr. De Curtis Fernandez is rated as an Experienced provider 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 Osteogenesis Imperfecta, Cerebral Palsy, Spasticity, and Spastic Diplegia Infantile Type.

    Experienced in Desbuquois Syndrome
    Rheumatology
    Experienced in Desbuquois Syndrome
    Rheumatology

    Internal Medicine Physicians At Friendship Heights LLC

    5530 Wisconsin Ave Ste 1445, 
    Chevy Chase, MD 
    Languages Spoken:
    English

    Deborah Litman is a Rheumatologist practicing medicine in Chevy Chase, Maryland. Dr. Litman is rated as an Experienced provider by MediFind in the treatment of Desbuquois Syndrome. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Postmenopausal Osteoporosis, Osteoporosis, Melorheostosis with Osteopoikilosis, and Melorheostosis.

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    Last Updated: 04/28/2026

    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 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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