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    Last Updated: 01/09/2026

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    MediFind found 35 doctor with experience in Singleton-Merten Syndrome near Pennsylvania, US. Of these, 30 are Experienced, 4 are Advanced and 1 are Distinguished.

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    35 providers found
      Distinguished in Singleton-Merten Syndrome
      Pediatric Neurology | Neurology
      Distinguished in Singleton-Merten Syndrome
      Pediatric Neurology | Neurology

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Adeline Vanderver is a Pediatric Neurologist and a Neurologist in Philadelphia, Pennsylvania. Dr. Vanderver is rated as a Distinguished provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Aicardi-Goutieres Syndrome, Leukodystrophy, CACH Syndrome, Pol 3-Related Leukodystrophy, and Gastrostomy.

      Patrick Ratnasamy
      Internal Medicine
      Internal Medicine

      Internists Of Central PA

      108 Lowther Street, 
      Lemoyne, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Patrick Ratnasamy is a primary care provider, practicing in Internal Medicine in Lemoyne, Pennsylvania. Dr. Ratnasamy is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Chronic Cough, Cor Pulmonale, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism.

      Advanced in Singleton-Merten Syndrome
      Pediatric Orthopedics | Orthopedics
      Advanced in Singleton-Merten Syndrome
      Pediatric Orthopedics | Orthopedics
      3401 N Broad St, Orthopaedic Surgery, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Arianna Trionfo is a Pediatric Orthopedics specialist and an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Trionfo is rated as an Advanced provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Spastic Diplegia Infantile Type, Beukes Familial Hip Dysplasia, Opsismodysplasia, Osteotomy, and Tenotomy. Dr. Trionfo is currently accepting new patients.

      Learn about our expert tiers
      Advanced in Singleton-Merten Syndrome
      Pediatric Radiology | Radiology
      Advanced in Singleton-Merten Syndrome
      Pediatric Radiology | Radiology
      500 University Dr, 
      Hershey, PA 
      Languages Spoken:
      English

      Michael Moore is a Pediatric Radiologist and a Radiologist in Hershey, Pennsylvania. Dr. Moore is rated as an Advanced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Scoliosis, and Hypochondroplasia.

      Advanced in Singleton-Merten Syndrome
      General Surgery
      Advanced in Singleton-Merten Syndrome
      General Surgery
      3551 N Broad St, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Scott Kozin is a General Surgeon in Philadelphia, Pennsylvania. Dr. Kozin is rated as an Advanced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Syndactyly Type 1, Proximal Symphalangism, Syndactyly Type 3, Osteotomy, and Bone Graft. Dr. Kozin is currently accepting new patients.

      Advanced in Singleton-Merten Syndrome
      Pediatric Orthopedics | Orthopedics
      Advanced in Singleton-Merten Syndrome
      Pediatric Orthopedics | Orthopedics
      3551 N Broad St, 8th Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Sarah Nossov is a Pediatric Orthopedics specialist and an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Nossov is rated as an Advanced provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Arthrogryposis Multiplex Congenita, Absence of Tibia, Congenital Femoral Deficiency, and Clubfoot. Dr. Nossov is currently accepting new patients.

      Marina Zaretskaya
      Experienced in Singleton-Merten Syndrome
      Experienced in Singleton-Merten Syndrome

      UPMC Neurological Institute-Mercy

      1350 Locust Street, Suite 105, 
      Pittsburgh, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Marina Zaretskaya is a Neurologist in Pittsburgh, Pennsylvania. Dr. Zaretskaya is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Seizures, Myasthenia Gravis, Post-Traumatic Epilepsy, and Serotonin Syndrome. Dr. Zaretskaya is currently accepting new patients.

      Claudiu Muresan
      Experienced in Singleton-Merten Syndrome
      Hand Surgery
      Experienced in Singleton-Merten Syndrome
      Hand Surgery

      Hand Microsurgery And Reconstructive Orthopaedics LLP

      300 State Street, Suite 205, 
      Erie, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Claudiu Muresan is a Hand Surgeon in Erie, Pennsylvania. Dr. Muresan is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Rhizarthrosis, Carpal Tunnel Syndrome, Trigger Thumb, and Macrodactyly of the Hand. Dr. Muresan is currently accepting new patients.

      Orthopedic Institute Of Pennsylvania

      3399 Trindle Road, 
      Camp Hill, PA 
      Languages Spoken:
      English

      Curtis Goltz is an Orthopedics provider in Camp Hill, Pennsylvania. Dr. Goltz is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Osteoarthritis, Tendinitis, Carpal Tunnel Syndrome, Knee Replacement, and Sacral Nerve Stimulation.

      Mark A. Krahe
      Podiatric Surgery
      Podiatric Surgery

      UPMC Orthopaedic & Sports Medicine Of Erie

      100 Peach Street, Suite 400, 
      Erie, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Mark Krahe, DO, is board-certified in orthopaedic surgery by the American Osteopathic Board of Orthopedic Surgery. He earned his medical degree from Philadelphia College of Osteopathic Medicine. Dr. Krahe completed his residency at Cleveland Clinic - South Pointe Hospital in Warrensville Heights, Ohio and his fellowship at The Ohio State University College of Medicine - OhioHealth Grant Medical Center. Dr. Krahe is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Tendinitis, Flat Feet, Macrodactyly of the Foot, Plantar Fasciitis, and Hip Replacement.

      Experienced in Singleton-Merten Syndrome
      Child and Adolescent Psychiatry | Neurology
      Experienced in Singleton-Merten Syndrome
      Child and Adolescent Psychiatry | Neurology
      3401 Civic Center Blvd, Chca Nuerology, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Laura Adang is a Child and Adolescent Psychiatrist and a Neurologist in Philadelphia, Pennsylvania. Dr. Adang is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Aicardi-Goutieres Syndrome, Metachromatic Leukodystrophy, Leukodystrophy, CACH Syndrome, and Gastrostomy.

      Experienced in Singleton-Merten Syndrome
      Orthopedics
      Experienced in Singleton-Merten Syndrome
      Orthopedics

      The Milton S Hershey Medical Center Physicians Group

      500 University Dr, 
      Hershey, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Edward Fox is an Orthopedics provider in Hershey, Pennsylvania. Dr. Fox is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Chondroblastoma, Chondroma, Osteochondroma, Postmenopausal Osteoporosis, and Hip Replacement.

      Experienced in Singleton-Merten Syndrome
      Pediatric Orthopedics | Orthopedics
      Experienced in Singleton-Merten Syndrome
      Pediatric Orthopedics | Orthopedics
      100 E Penn Sq, The Wanamaker Bldg 9th Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Alexandre Arkader is a Pediatric Orthopedics specialist and an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Arkader is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Hereditary Multiple Osteochondromas, Osteochondroma, Chondroblastoma, Osteotomy, and Bone Graft.

      Experienced in Singleton-Merten Syndrome
      Experienced in Singleton-Merten Syndrome

      Stc Pediatrics LLC

      160 E Erie Ave, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Sarah Contrucci is a Radiologist in Philadelphia, Pennsylvania. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS).

      Experienced in Singleton-Merten Syndrome
      Experienced in Singleton-Merten Syndrome

      Stc Pediatrics LLC

      160 E Erie Ave, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Alison Gattuso is an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Gattuso is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Scoliosis, and Beukes Familial Hip Dysplasia.

      Experienced in Singleton-Merten Syndrome
      Pediatric Rheumatology | Pediatrics
      Experienced in Singleton-Merten Syndrome
      Pediatric Rheumatology | Pediatrics
      3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Rheumatology, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Jon Burnham is a Pediatric Rheumatologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Burnham is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Juvenile Idiopathic Arthritis (JIA), Arthritis, Pulmonary Alveolar Proteinosis, and Juvenile Dermatomyositis.

      Experienced in Singleton-Merten Syndrome
      Experienced in Singleton-Merten Syndrome
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Joshua Pahys is an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Pahys is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Scoliosis, Kyphosis, Adolescent Idiopathic Scoliosis, Spinal Fusion, and Osteotomy. Dr. Pahys is currently accepting new patients.

      Experienced in Singleton-Merten Syndrome
      Radiology
      Experienced in Singleton-Merten Syndrome
      Radiology

      The Milton S Hershey Medical Center Physicians Group

      500 University Dr, 
      Hershey, PA 
      Languages Spoken:
      English

      James Brian is a Radiologist in Hershey, Pennsylvania. Dr. Brian is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. His top areas of expertise are Tracheobronchopathia Osteoplastica, Congenital Unilateral Pulmonary Hypoplasia, Trisomy 17 Mosaicism, and Mosaic Trisomy 9.

      Experienced in Singleton-Merten Syndrome
      Medical Genetics | Pediatrics
      Experienced in Singleton-Merten Syndrome
      Medical Genetics | Pediatrics
      3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Genetics, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Elaine Zackai is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Zackai is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

      Experienced in Singleton-Merten Syndrome
      Emergency Medicine | Pediatrics
      Experienced in Singleton-Merten Syndrome
      Emergency Medicine | Pediatrics
      3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Emergency Med, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Eron Friedlaender is an Emergency Medicine specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Friedlaender is rated as an Experienced provider by MediFind in the treatment of Singleton-Merten Syndrome. Her top areas of expertise are Autism Spectrum Disorder, Asthma in Children, Microcephaly, and Delayed Growth.

      Showing 1-20 of 35

      Last Updated: 01/09/2026

      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 Pennsylvania, 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 Singleton-Merten Syndrome doctor in Pennsylvania, 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 Singleton-Merten Syndrome doctors in Pennsylvania, 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 Singleton-Merten Syndrome doctors in Pennsylvania, 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 Singleton-Merten Syndrome doctor in Pennsylvania, 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 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 Pennsylvania, 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 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 Pennsylvania, US?

      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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