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    Last Updated: 10/30/2025

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    MediFind found 3 doctor with experience in Singleton-Merten Syndrome near Spain. Of these, 3 are Experienced.

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    3 providers found
      Experienced in Singleton-Merten Syndrome

      Miguel Tomas-Vila
      Experienced in Singleton-Merten Syndrome

      Miguel Tomas-Vila
      Valencia, VC, ES 

      Miguel Tomas-Vila practices in Valencia, Spain. Mr. Tomas-Vila is rated as an Experienced expert by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Subependymal Nodular Heterotopia, Aicardi-Goutieres Syndrome, Singleton-Merten Syndrome, and Norrie Disease.

      Experienced in Singleton-Merten Syndrome

      Itxaso Marti
      Experienced in Singleton-Merten Syndrome

      Itxaso Marti
      San Sebastian, PV, ES 

      Itxaso Marti practices in San Sebastian, Spain. Marti is rated as an Experienced expert by MediFind in the treatment of Singleton-Merten Syndrome. Their top areas of expertise are Singleton-Merten Syndrome, Pontocerebellar Hypoplasia, Cerebellar Multiple System Atrophy, and Small for Gestational Age.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Experienced in Singleton-Merten Syndrome

      Belen Duenas-Perez
      Experienced in Singleton-Merten Syndrome

      Belen Duenas-Perez
      Barcelona, CT, ES 

      Belen Duenas-Perez practices in Barcelona, Spain. Ms. Duenas-Perez is rated as an Experienced expert by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Myoclonus-Dystonia, Drug Induced Dyskinesia, Hallervorden-Spatz Disease, PMM2-Congenital Disorder of Glycosylation, and Deep Brain Stimulation.

      Learn about our expert tiers
      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 1-3 of 3

      Last Updated: 10/30/2025

      What is the definition of Singleton-Merten Syndrome?

      Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bones (osteoporosis), especially in the upper and back portions of the skull. Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone (hypotonia); progressive wasting of the muscles (muscle atrophy); heart arrhythmia, growth and developmental delay; skin problems such as psoriasis; malformation of the hips and/or feet and limbs or fingers, joint problems, tendon rupture, distinct facial features, and vision problems due to glaucoma. Severe systemic lupus erythematosus can also occur with Singleton-Merten syndrome. Singleton-Merten syndrome is caused by genetic changes in the IFIH1 gene, and in the DDX58 genes (which causes an atypical form of Singleton-Merten syndrome where there are no teeth problems). Inheritance is autosomal dominant, but it may also occur sporadically (in individuals with no history of the condition in their family). The genes causing Singeleton-Merten syndrome can activate type I interferon (IFN1) responses. Diseases related to INF1 are known as type I interferonopathies. Type I interferonopathies are a group of rheumatic diseases that are frequently severe. These diseases include Aicardi-Goutiè, res syndrome, familial chilblain lupus, spondyloenchondrodysplasia, the proteasome associated autoinflammatory syndromes, IFN-stimulated gene 15 (ISG15) deficiency, Singleton-Merten syndrome, and STING-associated vasculopathy with onset in infancy (SAVI).

      When should I see a Singleton-Merten Syndrome doctor in Spain?

      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 Singleton-Merten Syndrome doctor in Spain?

      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 Singleton-Merten Syndrome doctor in Spain?

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

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      How does MediFind rank Singleton-Merten Syndrome doctors in Spain?

      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 Singleton-Merten Syndrome doctors in Spain?

      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 Singleton-Merten Syndrome doctor in Spain?

      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 Singleton-Merten Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Singleton-Merten 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 Singleton-Merten Syndrome doctor in Spain?

      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 Singleton-Merten 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 Singleton-Merten 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 Singleton-Merten Syndrome doctors in Spain?

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

      Look for the filter feature on the left-side of the Singleton-Merten 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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