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    Last Updated: 10/30/2025

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    MediFind found 379 doctor with experience in Smith-Lemli-Opitz Syndrome. Of these, 268 are Experienced, 88 are Advanced, 13 are Distinguished and 10 are Elite.

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    379 providers found
      Elite in Smith-Lemli-Opitz Syndrome
      Medical Genetics | Pediatrics
      Elite in Smith-Lemli-Opitz Syndrome
      Medical Genetics | Pediatrics
      10 Center Dr, 10-crc, Room 5-2571, 
      Bethesda, MD 
      Languages Spoken:
      English

      Forbes Porter is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Porter is rated as an Elite provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

      Elite in Smith-Lemli-Opitz Syndrome
      Medical Genetics | Pediatrics
      Elite in Smith-Lemli-Opitz Syndrome
      Medical Genetics | Pediatrics
      1500 Highland Ave, 
      Madison, WI 
      Languages Spoken:
      English
      Accepting New Patients

      Robert Steiner is a Medical Genetics specialist and a Pediatrics provider in Madison, Wisconsin. Dr. Steiner is rated as an Elite provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, Osteogenesis Imperfecta, and Homozygous Familial Hypercholesterolemia (HoFH). Dr. Steiner is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Elite in Smith-Lemli-Opitz Syndrome
      Elite in Smith-Lemli-Opitz Syndrome
      Stott Lane, 
      Salford, ENG, GB 

      Ned Porter practices in Salford, United Kingdom. Mr. Porter is rated as an Elite expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Asthma, Atherosclerosis, and Tuberculous Meningitis.

      Learn about our expert tiers
      Elite in Smith-Lemli-Opitz Syndrome
      Elite in Smith-Lemli-Opitz Syndrome
      Heidelberg, BW, DE 

      Dorothea Haas practices in Heidelberg, Germany. Ms. Haas is rated as an Elite expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Von Gierke Disease, Mitochondrial Trifunctional Protein Deficiency, and Phenylketonuria (PKU).

      Elite in Smith-Lemli-Opitz Syndrome
      Elite in Smith-Lemli-Opitz Syndrome
      Hamilton, ON, CA 

      Malgorzata Nowaczyk practices in Hamilton, Canada. Ms. Nowaczyk is rated as an Elite expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Floating-Harbor Syndrome, Sotos Syndrome, and Microcephaly.

      Elite in Smith-Lemli-Opitz Syndrome
      Elite in Smith-Lemli-Opitz Syndrome
      Innsbruck, AT 

      Martina Baumgartner-Witsch practices in Innsbruck, Austria. Ms. Baumgartner-Witsch is rated as an Elite expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Familial Hypercholesterolemia, Familial Chronic Mucocutaneous Candidiasis, and Hyperelastic Skin.

      Elite in Smith-Lemli-Opitz Syndrome
      Pediatrics | Medical Genetics
      Elite in Smith-Lemli-Opitz Syndrome
      Pediatrics | Medical Genetics

      Vandever Medical Offices

      4405 Vandever Ave, 
      San Diego, CA 
      Languages Spoken:
      English
      Accepting New Patients

      Simona Bianconi is a Pediatrics specialist and a Medical Genetics provider in San Diego, California. Dr. Bianconi is rated as an Elite provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, Niemann-Pick Disease, and Reticulohistiocytoma. Dr. Bianconi is currently accepting new patients.

      Elite in Smith-Lemli-Opitz Syndrome
      Elite in Smith-Lemli-Opitz Syndrome
      Debrecen, HB, HU 

      Katalin Koczok practices in Debrecen, Hungary. Ms. Koczok is rated as an Elite expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Dystrophinopathy, Marfan Syndrome, and Syndactyly.

      Elite in Smith-Lemli-Opitz Syndrome
      Medical Genetics | Pediatrics
      Elite in Smith-Lemli-Opitz Syndrome
      Medical Genetics | Pediatrics

      University Physicians Incorporated

      13123 E 16th Ave, 
      Aurora, CO 
      Languages Spoken:
      English
      Accepting New Patients

      Ellen Elias is a Medical Genetics specialist and a Pediatrics provider in Aurora, Colorado. Dr. Elias is rated as an Elite provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Ehlers-Danlos Syndrome (EDS), Musculocontractural Ehlers-Danlos Syndrome (mcEDS), and Delayed Growth. Dr. Elias is currently accepting new patients.

      Elite in Smith-Lemli-Opitz Syndrome
      Elite in Smith-Lemli-Opitz Syndrome
      Grove Building, Singleton Park, 
      Swansea, WLS, GB 

      William Griffiths practices in Swansea, United Kingdom. Mr. Griffiths is rated as an Elite expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Cerebrotendinous Xanthomatosis, Xanthoma, Spastic Paraplegia Type 5A, and Liver Transplant.

      Aaron R. Prosnitz
      Advanced in Smith-Lemli-Opitz Syndrome
      Pediatric Cardiology
      Advanced in Smith-Lemli-Opitz Syndrome
      Pediatric Cardiology

      Atrium Health Levine Children's HEARTest Yard Congenital Heart Center

      1001 Blythe Blvd., Suite 500, 
      Charlotte, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Aaron Prosnitz is a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Prosnitz is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Cardiomyopathic Lentiginosis, Familial Dysautonomia, and Congenital Heart Disease (CHD). Dr. Prosnitz is currently accepting new patients.

      Distinguished in Smith-Lemli-Opitz Syndrome
      Distinguished in Smith-Lemli-Opitz Syndrome
      Grove Building, Singleton Park, 
      Swansea, WLS, GB 

      Yuqin Wang practices in Swansea, United Kingdom. Wang is rated as a Distinguished expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Their top areas of expertise are Smith-Lemli-Opitz Syndrome, Cerebrotendinous Xanthomatosis, Xanthoma, and Spastic Paraplegia Type 5A.

      Distinguished in Smith-Lemli-Opitz Syndrome
      Distinguished in Smith-Lemli-Opitz Syndrome
      Debrecen, HB, HU 

      Istvan Balogh practices in Debrecen, Hungary. Mr. Balogh is rated as a Distinguished expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Maturity Onset Diabetes of the Young, Cerebrotendinous Xanthomatosis, and Xanthoma.

      Distinguished in Smith-Lemli-Opitz Syndrome
      Distinguished in Smith-Lemli-Opitz Syndrome
      Debrecen, HB, HU 

      Gabriella Szabo practices in Debrecen, Hungary. Ms. Szabo is rated as a Distinguished expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Dystrophinopathy, and Marfan Syndrome.

      Distinguished in Smith-Lemli-Opitz Syndrome
      Medical Genetics
      Distinguished in Smith-Lemli-Opitz Syndrome
      Medical Genetics
      707 N Broadway, Room 526, 
      Baltimore, MD 
      Languages Spoken:
      English

      Lisa Kratz is a Medical Genetics provider in Baltimore, Maryland. Dr. Kratz is rated as a Distinguished provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top areas of expertise are Greenberg Dysplasia, Smith-Lemli-Opitz Syndrome, Rhizomelic Syndrome, and Chondrodysplasia Punctata Syndrome.

      Distinguished in Smith-Lemli-Opitz Syndrome
      Distinguished in Smith-Lemli-Opitz Syndrome
      Innsbruck, AT 

      Johannes Zschocke practices in Innsbruck, Austria. Mr. Zschocke is rated as a Distinguished expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His top areas of expertise are Ehlers-Danlos Syndrome (EDS), Smith-Lemli-Opitz Syndrome, Hyperelastic Skin, and Ichthyosis Vulgaris.

      Distinguished in Smith-Lemli-Opitz Syndrome
      Distinguished in Smith-Lemli-Opitz Syndrome
      Level 3, Rode Road, 
      Brisbane, QLD, AU 

      Anika Prabhu practices in Brisbane, Australia. Ms. Prabhu is rated as a Distinguished expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top area of expertise is Smith-Lemli-Opitz Syndrome.

      Distinguished in Smith-Lemli-Opitz Syndrome
      Distinguished in Smith-Lemli-Opitz Syndrome
      Warsaw, MZ, PL 

      Aleksandra Stanek-Jezela practices in Warsaw, Poland. Ms. Stanek-Jezela is rated as a Distinguished expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. Her top areas of expertise are Fryns Syndrome, Smith-Lemli-Opitz Syndrome, Hypotonia, and Blepharophimosis.

      Distinguished in Smith-Lemli-Opitz Syndrome
      Distinguished in Smith-Lemli-Opitz Syndrome
      Swansea, WLS, GB 

      Jonas Khalik-Abdel practices in Swansea, United Kingdom. Mr. Khalik-Abdel is rated as a Distinguished expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Cerebrotendinous Xanthomatosis, Xanthoma, and Primary Lateral Sclerosis.

      Distinguished in Smith-Lemli-Opitz Syndrome
      Distinguished in Smith-Lemli-Opitz Syndrome

      Karolinska Institutet

      Stockholm, AB, SE 

      Ingemar Bjorkhem practices in Stockholm, Sweden. Mr. Bjorkhem is rated as a Distinguished expert by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. His top areas of expertise are Cerebrotendinous Xanthomatosis, Spastic Paraplegia Type 5A, Xanthoma, and Smith-Lemli-Opitz Syndrome.

      Showing 1-20 of 379

      Last Updated: 10/30/2025

      What is the definition of Smith-Lemli-Opitz Syndrome?

      Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body systems. Signs and symptoms may include characteristic facial features, small head size, growth and developmental delays, and intellectual and behavioral problems. Individuals with SLOS have abnormally low levels of cholesterol in their blood and high levels of a chemical known as 7-dehydrocholestrol. The severity of symptoms varies from individual to individual. Many babies have feeding difficulties and growth issues. Some are born with heart, kidney, and adrenal problems. Most people with SLOS have some degree of intellectual and behavioral difficulties. This condition is caused by genetic changes (DNA variants) in the DHCR7 gene and is inherited in an autosomal recessive pattern. This condition is diagnosed based on the features and laboratory and genetic testing.

      When should I see a Smith-Lemli-Opitz Syndrome doctor near me?

      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 Smith-Lemli-Opitz Syndrome doctor near me?

      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 Smith-Lemli-Opitz Syndrome doctors near me?

      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 Smith-Lemli-Opitz Syndrome doctors near me?

      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 Smith-Lemli-Opitz Syndrome doctor near me?

      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 Smith-Lemli-Opitz Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Smith-Lemli-Opitz 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 Smith-Lemli-Opitz Syndrome doctor near me?

      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 Smith-Lemli-Opitz 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 Smith-Lemli-Opitz 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 Smith-Lemli-Opitz Syndrome doctors near me?

      Look for the filter feature on the left side of the Smith-Lemli-Opitz 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 Smith-Lemli-Opitz Syndrome doctor that offers video calls?

      Look for the filter feature on the left-side of the Smith-Lemli-Opitz 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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