The 20 Best Smith-Lemli-Opitz Syndrome Doctors in The United States

Find the Top Smith-Lemli-Opitz Syndrome Experts and Specialists

Last Updated: 11/08/2026

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MediFind found 40 doctor with experience in Smith-Lemli-Opitz Syndrome near The United States. Of these, 17 are Advanced, 17 are Experienced, 4 are Elite and 2 are Distinguished.

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40 providers found
    Elite in Smith-Lemli-Opitz Syndrome
    Elite in Smith-Lemli-Opitz Syndrome
    Referral may be required

    American Family Children's Hospital Pediatric Bone And Mineral Metabolism Clinic

    1675 Highland Ave, 
    Madison, WI 
    Languages Spoken:
    English
    Accepting New Patients

    Robert Steiner is a Pediatrics provider practicing medicine in Madison, Wisconsin. Dr. Steiner is rated as an Elite provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Osteogenesis Imperfecta, Phenylketonuria (PKU), and Gaucher Disease Type 1. Dr. Steiner is board certified in Pediatrics, Clinical Biochemical Genetics, and Clinical Genetics And Genomics. Dr. Steiner is currently accepting new patients.

    Elite in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Elite in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Referral may be required
    10 Center Dr, 10-crc, Room 5-2571, 
    Bethesda, MD 
    Languages Spoken:
    English

    Forbes Porter is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Bethesda, Maryland. Dr. Porter is rated as an Elite provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

    Elite in Smith-Lemli-Opitz Syndrome
    Pediatrics | Medical Genetics
    Elite in Smith-Lemli-Opitz Syndrome
    Pediatrics | Medical Genetics
    Referral may be required

    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 practicing medicine in San Diego, California. Dr. Bianconi is rated as an Elite provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, Niemann-Pick Disease, and Reticulohistiocytoma. Dr. Bianconi is currently accepting new patients.

    Learn about our expert tiers
    Elite in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Elite in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    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 practicing medicine in Aurora, Colorado. Dr. Elias is rated as an Elite provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Ehlers-Danlos Syndrome (EDS), Musculocontractural Ehlers-Danlos Syndrome (mcEDS), and Delayed Growth. Dr. Elias is currently accepting new patients.

    Distinguished in Smith-Lemli-Opitz Syndrome
    Pediatric Endocrinology
    Distinguished in Smith-Lemli-Opitz Syndrome
    Pediatric Endocrinology
    Referral may be required

    Peyton Manning Children's Hospital At Ascension St. Vincent-Pediatric Ear Nose And Throat

    8402 Harcourt Rd Ste 300, 
    Indianapolis, IN 
    Languages Spoken:
    English
    Accepting New Patients

    Samar Rahhal is a Pediatric Endocrinologist practicing medicine in Indianapolis, Indiana. Dr. Rahhal is rated as a Distinguished provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, and Niemann-Pick Disease. Dr. Rahhal is currently accepting new patients.

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

    Lisa Kratz is a Medical Genetics provider practicing medicine in Baltimore, Maryland. Dr. Kratz is rated as a Distinguished provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Greenberg Dysplasia, Rhizomelic Syndrome, Smith-Lemli-Opitz Syndrome, and Chondrodysplasia Punctata Syndrome.

    Advanced in Smith-Lemli-Opitz Syndrome
    Pediatric Neurology | Neurology
    Advanced in Smith-Lemli-Opitz Syndrome
    Pediatric Neurology | Neurology
    Referral may be required

    Pediatric Specialists Of Virginia

    3023 Hamaker Ct, 300, 
    Fairfax, VA 
    Languages Spoken:
    English, Urdu
    Accepting New Patients
    Offers Telehealth

    John Schreiber is a Pediatric Neurologist and a Neurologist practicing medicine in Fairfax, Virginia. Dr. Schreiber is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Epilepsy, Myoclonic Epilepsy, Seizures, and Epilepsy with Myoclonic-Atonic Seizures. Dr. Schreiber is board certified in Epilepsy: American Board Of Psychiatry And Neurology, 2016, American Board Of Psychiatry And Neurology, 2011, and American Board Of Psychiatry And Neurology, 2013. Dr. Schreiber is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Pediatrics | Medical Genetics
    Advanced in Smith-Lemli-Opitz Syndrome
    Pediatrics | Medical Genetics
    Referral may be required

    Atrium Health Levine Children's Genetics

    1001 Blythe Blvd., Suite 200, 
    Charlotte, NC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Edwin Ferren is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Charlotte, North Carolina. Dr. Ferren is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Methylmalonic Acidemia with Homocystinuria, Fabry Disease, Multiple Sulfatase Deficiency, and Gastrostomy. Dr. Ferren is board certified in American Board Of Medical Genetics. Dr. Ferren is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics
    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics
    Referral may be required

    Munroe Meyer Institute

    6902 Pine Street, 
    Omaha, NE 
    Languages Spoken:
    English, American Sign Language
    Accepting New Patients

    William Rizzo is a Medical Genetics provider practicing medicine in Omaha, Nebraska. Dr. Rizzo is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Sjogren-Larsson Syndrome, Zellweger Syndrome, Pompe Disease, and Danon Disease. Dr. Rizzo is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Referral may be required
    6410 Fannin St, Ste 500, 
    Houston, TX 
    Languages Spoken:
    English
    Accepting New Patients

    Hope Northrup is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Houston, Texas. Dr. Northrup is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Tuberous Sclerosis, Cortical Dysplasia, Epilepsy in Children, and Phenylketonuria (PKU). Dr. Northrup is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics
    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics
    Referral may be required
    6410 Fannin St, Ste 500, 
    Houston, TX 
    Languages Spoken:
    English, French, Swahili
    Accepting New Patients
    Offers Telehealth

    Paul Hillman is a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Hillman is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Smith-Lemli-Opitz Syndrome, Angelman Syndrome, and Microcephaly. Dr. Hillman is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Advanced in Smith-Lemli-Opitz Syndrome
    Referral may be required

    Nemours Children's Health, Milford

    101 Wellness Way, 
    Milford, DE 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Abbas Zaidi is a Cardiologist practicing medicine in Milford, Delaware. Dr. Zaidi is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Cardiomyopathy, Congenital Anti-Plasmin Deficiency, Heart Murmurs, and Hypertrophic Cardiomyopathy (HCM). Dr. Zaidi is board certified in American Board Of Pediatrics, Pediatric Cardiology, American Board Of Pediatrics , and American Board Of Pediatrics. Dr. Zaidi is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Advanced in Smith-Lemli-Opitz Syndrome
    Referral may be required

    Brigham And Women's Hospital, Heart And Vascular Center

    70 Francis Street, Carl J. And Ruth Shapiro Cardiovascular Center, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Jane Leopold is a Cardiologist practicing medicine in Boston, Massachusetts. Dr. Leopold is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Pulmonary Hypertension, Hypertension, Heart Attack, Angioplasty, and Percutaneous Coronary Intervention (PCI). Dr. Leopold is board certified in Cardiovascular Disease and Interventional Cardiology. Dr. Leopold is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Advanced in Smith-Lemli-Opitz Syndrome
    Referral may be required

    Kennedy Krieger Institute

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

    Joshua Ewen is a Neurologist practicing medicine in Baltimore,, Maryland. Dr. Ewen is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Sturge-Weber Syndrome, Smith-Lemli-Opitz Syndrome, Epilepsy in Children, and Autism Spectrum Disorder. Dr. Ewen is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    Mcv Associated Physicians

    1000 E Broad St, 
    Richmond, VA 
    Languages Spoken:
    English
    Offers Telehealth

    Susan Sparks is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Richmond, Virginia. Dr. Sparks is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Smith-Lemli-Opitz Syndrome, and Danon Disease.

    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Mira Irons is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Irons is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Microcephaly Deafness Syndrome, Gastroesophageal Reflux in Infants, and Short Stature (Growth Disorders). Dr. Irons is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Internal Medicine
    Advanced in Smith-Lemli-Opitz Syndrome
    Internal Medicine

    Boston Heart Diagnostics

    200 Crossing Blvd, 
    Framingham, MA 
    Languages Spoken:
    English

    Ernst Schaefer is a primary care provider, practicing in Internal Medicine in Framingham, Massachusetts. Dr. Schaefer is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Apo A-I Deficiency, Familial HDL Deficiency, Familial Combined Hyperlipidemia, and High Cholesterol.

    Advanced in Smith-Lemli-Opitz Syndrome
    Internal Medicine
    Advanced in Smith-Lemli-Opitz Syndrome
    Internal Medicine

    Vanderbilt University

    3601 21st Ave S, 
    Nashville, TN 
    Languages Spoken:
    English

    Navila Sharif is a primary care provider, practicing in Internal Medicine in Nashville, Tennessee. Dr. Sharif is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Heyde Syndrome, Cranio Osteoarthropathy, and Pachydermoperiostosis.

    Advanced in Smith-Lemli-Opitz Syndrome
    Internal Medicine
    Advanced in Smith-Lemli-Opitz Syndrome
    Internal Medicine

    Thoma & Sutton EyeCare Professionals LLC

    222 Piedmont Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Shailendra Patel is a primary care provider, practicing in Internal Medicine in Cincinnati, Ohio. Dr. Patel is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Sitosterolemia, Adrenal Insufficiency Pediatric, Secondary Adrenal Insufficiency, and Addison's Disease. Dr. Patel is currently accepting new patients.

    Advanced in Smith-Lemli-Opitz Syndrome
    Endocrinology
    Advanced in Smith-Lemli-Opitz Syndrome
    Endocrinology
    Referral required

    Thoma & Sutton EyeCare Professionals LLC

    222 Piedmont Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Vincent Fong is an Endocrinologist practicing medicine in Cincinnati, Ohio. Dr. Fong is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Osteoporosis, Postmenopausal Osteoporosis, Paget's Disease of Bone, and Juvenile Primary Osteoporosis. Dr. Fong is currently accepting new patients.

    Showing 1-20 of 40

    Last Updated: 11/08/2026

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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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