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

Dr. Steiner has a longstanding interest and expertise in biochemical genetic disorders, including those affecting bone metabolism. Steiner is a graduate of the University of Wisconsin and was awarded an MD from the University of Wisconsin School of Medicine and Public Health (formerly UW Medical School), Madison, WI. He completed residency in pediatrics at Cincinnati Children’s Hospital Medical Center and fellowship in medical genetics at the University of Washington and Seattle Children’s Hospital Regional Medical Center. Dr. Steiner is board certified in pediatrics, clinical genetics, and clinical biochemical genetics, and is a member of the faculty of the Division of Genetics and Metabolism.Dr. Steiner is an active pediatric genetics clinician, with particular interests in pediatric metabolic bone diseases, inherited metabolic diseases, lysosomal storage diseases, cholesterol disorders, and newborn screening. 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 board certified in Clinical Biochemical Genetics, Clinical Genetics And Genomics, and Pediatrics.

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.

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.

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.

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.

Aaron Prosnitz is a Pediatrics specialist and a Cardiologist practicing medicine in Charlotte, North Carolina. He has been practicing medicine for over 16 years. 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 Cardiac Diverticulum. Dr. Prosnitz is board certified in American Board Of Pediatrics, (Pediatrics), and (Pediatrics, Pediatric Cardiology).

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 9 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.

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.

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 37 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).

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 Smith-Lemli-Opitz Syndrome. Dr. Kritzer is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics And Genomics.

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 Autism Spectrum Disorder.

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).

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.

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, Hemihyperplasia, and Alstrom Syndrome.

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.

John M. Schreiber, MD, FAES, is the Associate Chief of Epilepsy and EEG Operations, Medical Director of EEG and the Epilepsy Monitoring Unit and the director of Epilepsy Genetics at Children's National Hospital. After earning his medical degree cum laude at the University of Maryland School of Medicine, he completed Pediatrics and Child Neurology training at Children’s National Hospital. Before returning in 2013, he served as an Epilepsy and Clinical Neurophysiology Fellow at the National Institutes of Health, gaining experience in epilepsy clinical trials and in neurogenetic disorders. His primary clinical and research interests are on the diagnosis, evaluation and treatment of genetically-mediated epilepsies, particularly channelopathies. Dr. Schreiber is the principal investigator at Children’s National for various epilepsy observational and interventional clinical trials with a focus on neurogenetic disorders. He serves on the Pediatric Epilepsy Research Consortium board, is the co-chair for the Investigators' Workshop Committee of the American Epilepsy Society, and serves on the Epilepsy Foundation Professional Advisory Board and several other advisory boards. Publications PUBMED. 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. Dr. Schreiber is board certified in Epilepsy: American Board Of Psychiatry And Neurology, 2016, American Board Of Psychiatry And Neurology, 2013, and American Board Of Psychiatry And Neurology, 2011.

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.

Hope Northrup is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Houston, Texas. She has been practicing medicine for over 43 years. Dr. Northrup is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Cortical Dysplasia, Epilepsy in Children, Phenylketonuria (PKU), and Spasmus Nutans.

Dr. Paul Hillman earned his medical degree at Texas A&M College of Medicine. He completed his internship in pediatrics and his residency in pediatrics and medical genetics at McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth). In practice since 2015, Dr. Hillman is board certified in both pediatrics and medical genetics. His primary clinical interests are medical genetics, inborn errors of metabolism, lysosomal storage disorders, imprinting disorders and epigenetics. He treats patients of all ages. Dr Hillman makes certain that his patients understand the process of genetic testing and dedicates as much time as necessary to answer questions about their diagnoses. His patients value the time and effort he spends to secure genetic testing and to fully explain the meaning of the results after testing is complete. He is a fellow of the American College of Medical Genetics and an assistant professor of pediatrics at McGovern Medical School. Dr. Hillman is a resident of Houston. Dr. Hillman is rated as an Advanced provider by MediFind in the treatment of Smith-Lemli-Opitz Syndrome. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Angelman Syndrome, Microcephaly, and Tetrasomy 9p.

Abbas Zaidi is a Pediatric Cardiologist practicing medicine in Wilmington, 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 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 Pediatric Cardiology, American Board Of Pediatrics and American Board Of Pediatrics.