The 20 Best Smith-Lemli-Opitz Syndrome Doctors Near Me in Massachusetts, US

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

Last Updated: 04/28/2026

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MediFind found 7 doctor with experience in Smith-Lemli-Opitz Syndrome near Massachusetts, US. Of these, 4 are Advanced and 3 are Experienced.

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7 providers found
    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.

    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.

    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.

    Learn about our expert tiers
    Experienced in Smith-Lemli-Opitz Syndrome
    Pathology | Pediatrics
    Experienced in Smith-Lemli-Opitz Syndrome
    Pathology | Pediatrics

    Brigham And Womens Physicians Organization Inc

    75 Francis St, 
    Boston, MA 
    Languages Spoken:
    English

    David Miller is a Pathologist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Miller 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 Malignant Peripheral Nerve Sheath Tumor, Neurofibromatosis, Neurofibromatosis Type 1 (NF1), and Mosaicism. Dr. Miller is board certified in Clinical Genetics and Clinical Molecular Genetics.

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

    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 Neurofibromatosis Type 1 (NF1). 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 an Internal Medicine provider practicing 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 1 other condition, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Familial Hypertriglyceridemia, Lysosomal Acid Lipase Deficiency, and Homozygous Familial Hypercholesterolemia (HoFH).

    Experienced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    Experienced in Smith-Lemli-Opitz Syndrome
    Medical Genetics | Pediatrics
    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    William Brucker is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Brucker is rated as an Experienced 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 Wolman Disease, Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency, and Fetal Thalidomide Syndrome.

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    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 Massachusetts, 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 Smith-Lemli-Opitz Syndrome doctor in Massachusetts, 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 Smith-Lemli-Opitz Syndrome doctors in Massachusetts, 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 Smith-Lemli-Opitz Syndrome doctors in Massachusetts, 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 Smith-Lemli-Opitz Syndrome doctor in Massachusetts, 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 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 Massachusetts, 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 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 Massachusetts, US?

    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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