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

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

Last Updated: 04/28/2026

Save doctors for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Already have a doctor?
Find A Second Opinion

MediFind found 44 doctor with experience in Smith-Lemli-Opitz Syndrome near The United States. Of these, 19 are Experienced, 18 are Advanced, 4 are Elite and 3 are Distinguished.

Location
LocationClose
44 providers found
    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 practicing medicine in Charlotte, North Carolina. Dr. Prosnitz 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, Familial Dysautonomia, Congenital Heart Disease (CHD), and Cardiomyopathic Lentiginosis. Dr. Prosnitz is board certified in American Board Of Pediatrics. Dr. Prosnitz is currently accepting new patients.

    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 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 13 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
    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 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 4 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, Osteogenesis Imperfecta, and Maternal Hyperphenylalaninemia. Dr. Steiner 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

    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.

    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 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 5 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.

    Distinguished in Smith-Lemli-Opitz Syndrome
    Pediatric Endocrinology
    Distinguished in Smith-Lemli-Opitz Syndrome
    Pediatric Endocrinology

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

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

    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, Autism Spectrum Disorder, and Niemann-Pick Disease.

    Advanced in Smith-Lemli-Opitz Syndrome
    Advanced in Smith-Lemli-Opitz Syndrome

    Brigham And Women's Hospital, Heart And Vascular Center

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

    Dr. Jane A. Leopold is the director of the Women's Interventional Cardiology Health Initiative at Brigham and Women’s Hospital (BWH). An interventional cardiovascular medicine specialist, she is also an associate professor of medicine at Harvard Medical School (HMS).She received her medical degree at Boston University School of Medicine. She completed a residency in internal medicine at Beth Israel Deaconess Medical Center and two fellowships at Boston Medical Center—cardiovascular disease and interventional cardiology. Dr. Leopold is board certified in cardiovascular disease and interventional cardiology.Dr. Leopold developed the Women’s Interventional Cardiology Health Initiative at BWH, which uses advanced invasive diagnostic imaging and functional assessment devices to diagnose chest pain syndromes in women. The author of over 100 peer-reviewed publications, Dr. Leopold’s research interests include preclinical and clinical studies in pulmonary arterial hypertension and she is the principal investigator of a National Institutes of Health funded center at BWH to perform deep phenotyping in patients with Groups 1-5 pulmonary hypertension. She also studies mechanisms by which aldosterone influences vascular structure and function and cardiovascular disease in women. Her research has received support from the National Institutes of Health and the American Heart Association. 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.

    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 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, Smith-Lemli-Opitz Syndrome, Rhizomelic Syndrome, and Chondrodysplasia Punctata Syndrome.

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

    Children's National Hospital

    111 Michigan Ave NW, 
    Washington, DC 
    Languages Spoken:
    English

    Andrea Gropman is a Pediatrics provider practicing medicine in Washington, Washington, D.c.. Dr. Gropman is rated as a Distinguished provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 39 other conditions, according to our data. Her clinical expertise encompasses Klinefelter Syndrome, Urea Cycle Disorders (UCD), MELAS Syndrome, Ornithine Transcarbamylase Deficiency, and Hormone Replacement Therapy (HRT).

    Advanced in Smith-Lemli-Opitz Syndrome
    Advanced in Smith-Lemli-Opitz Syndrome

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    Amy Kritzer is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Kritzer is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Kritzer is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics And Genomics.

    Advanced in Smith-Lemli-Opitz Syndrome
    Neurology
    Advanced in Smith-Lemli-Opitz Syndrome
    Neurology

    Ann & Robert H. Lurie Children's Hospital Of Chicago

    225 E Chicago Ave, 
    Chicago, IL 
    Languages Spoken:
    English

    Joshua Ewen is a Neurologist practicing medicine in Chicago, Illinois. Dr. Ewen is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Sturge-Weber Syndrome, Smith-Lemli-Opitz Syndrome, Epilepsy in Children, and Parkes Weber Syndrome.

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

    OHSU Hospital

    3181 SW Sam Jackson Park Rd, 
    Portland, OR 
    Languages Spoken:
    English
    Offers Telehealth

    Paul Duell is an Endocrinologist practicing medicine in Portland, Oregon. Dr. Duell is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Familial Hypercholesterolemia, Defective Apolipoprotein B-100, Homozygous Familial Hypercholesterolemia (HoFH), and Heterozygous Familial Hypercholesterolemia (HeFH).

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

    Thoma & Sutton EyeCare Professionals LLC

    222 Piedmont Ave, 
    Cincinnati, OH 
    Languages Spoken:
    English

    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.

    Experienced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Experienced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    26901 76th Avenue, 
    New Hyde Park, NY 
    Languages Spoken:
    English

    Erica Fernandes is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New Hyde Park, New York. Dr. Fernandes is rated as an Experienced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 153 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, Chromosome 13q Deletion, Hennekam Syndrome, and Acrodermatitis Enteropathica.

    Experienced in Smith-Lemli-Opitz Syndrome
    Medical Genetics
    Experienced in Smith-Lemli-Opitz Syndrome
    Medical Genetics

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Experience:
    30+ years
    Languages Spoken:
    English
    Offers Telehealth

    Nina Powell is a Medical Genetics provider practicing medicine in Wilmington, Delaware. She has been practicing medicine for over 30 years. Dr. Powell is rated as an Experienced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 45 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, PIK3CA-Related Overgrowth Spectrum, Chromosome 13q Deletion, and Increased Head Circumference. Dr. Powell is board certified in American Board Of Medical Genetics And Genomics.

    Experienced in Smith-Lemli-Opitz Syndrome
    Experienced in Smith-Lemli-Opitz Syndrome

    Medical Genetics Metabolic In Lawrenceville

    4401 Penn Avenue, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Gerard (Jerry) Vockley MD, PhD, is a medical geneticist and is certified in clinical genetics and biochemical and molecular genetics by the American Board of Medical Genetics and Genomics. He is chief of the Division of Medical Genetics, director of the Center for Rare Disease Therapy, and is the Cleveland Family Endowed Professor of pediatric research at the University of Pittsburgh School of Medicine. He completed his medical degree and PhD at the University of Pennsylvania and completed his residency at the University of Colorado, followed by his fellowship at Yale University School of Medicine. Dr. Vockley is rated as an Experienced 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 Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Arginase Deficiency. Dr. Vockley is board certified in American Board Of Medical Genetics And Genomics and American Board Of Medical Genetics And Genomics.

    Advanced in Smith-Lemli-Opitz Syndrome
    Advanced in Smith-Lemli-Opitz Syndrome

    Pediatric Specialists Of Virginia

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

    John Schreiber is 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 15 other conditions, according to our data. His clinical expertise encompasses Epilepsy, Myoclonic Epilepsy, Seizures, and Epilepsy with Myoclonic-Atonic Seizures.

    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics
    Advanced in Smith-Lemli-Opitz Syndrome
    Medical Genetics

    Munroe Meyer Institute

    6902 Pine Street, 
    Omaha, NE 
    Experience:
    49+ years
    Languages Spoken:
    English

    William Rizzo is a Medical Genetics provider practicing medicine in Omaha, Nebraska. He has been practicing medicine for over 49 years. 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.

    Advanced in Smith-Lemli-Opitz Syndrome
    Advanced in Smith-Lemli-Opitz Syndrome

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Experience:
    24+ years
    Languages Spoken:
    English

    Abbas Zaidi is a Cardiologist practicing medicine in Wilmington, Delaware. He has been practicing medicine for over 24 years. Dr. Zaidi 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 Cardiomyopathy, Congenital Anti-Plasmin Deficiency, Heart Murmurs, and Pulmonary Vein Stenosis. Dr. Zaidi is board certified in American Board Of Pediatrics.

    Experienced in Smith-Lemli-Opitz Syndrome
    Pediatric Cardiology
    Experienced in Smith-Lemli-Opitz Syndrome
    Pediatric Cardiology

    Division Of Genetics And Genomics

    300 Longwood Ave, 
    Boston,, MA 
    Languages Spoken:
    English

    Ming Hui is a Pediatric Cardiologist practicing medicine in Boston,, Massachusetts. Dr. Hui is rated as an Experienced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Coronary Artery Aneurysm, Coronary Artery Fistula, Anomalous Left Coronary Artery from the Pulmonary Artery, Congenital Coronary Artery Malformation, and Heart Transplant.

    Showing 1-20 of 44

    Last Updated: 04/28/2026

    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 

    Read more about our Content Policy

    More Smith-Lemli-Opitz Syndrome Doctors by state