MediFind found 2219 doctor with experience in Marshall-Smith Syndrome. Of these, 2005 are Experienced, 201 are Advanced, 9 are Distinguished and 4 are Elite.
Raoul Hennekam practices in Amsterdam, Netherlands. Mr. Hennekam is rated as an Elite expert by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are Nicolaides-Baraitser Syndrome, Marshall-Smith Syndrome, Micrognathia, and Trichorhinophalangeal Syndrome Type 2.
Kreepa Kooblall practices in Oxford, United Kingdom. Kooblall is rated as an Elite expert by MediFind in the treatment of Marshall-Smith Syndrome. Their top areas of expertise are Marshall-Smith Syndrome, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia, and Septo-Optic Dysplasia.
Rajesh Thakker practices in Oxford, United Kingdom. Mr. Thakker is rated as an Elite expert by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are Hypercalcemia, Milk-Alkali Syndrome, Multiple Endocrine Neoplasia Type 1, Parathyroidectomy, and Thyroidectomy.
Manuela Priolo practices in Naples, Italy. Ms. Priolo is rated as an Elite expert by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Marshall-Smith Syndrome, Sotos Syndrome, Septo-Optic Dysplasia, and 1p36 Deletion Syndrome.
ETSU Pediatrics- St. Jude's Clinic
. Dr. Popescu is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Hereditary Spherocytosis, Von Willebrand Disease (VWD), Evans Syndrome, and Hemophilic Arthropathy.
Atrium Health Levine Children’s Cancer & Blood Disorders, A Facility Of Carolinas Medical Center
Chad Jacobsen is a Hematologist and an Oncologist in Charlotte, North Carolina. Dr. Jacobsen has been practicing medicine for over 29 years and is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are Neurofibromatosis Type 1 (NF1), Medulloblastoma, Neurofibromatosis, and Embryonal Tumor with Multilayered Rosettes. Dr. Jacobsen is currently accepting new patients.
ETSU Physicians & Associates- Pediatrics
. Dr. Gibson is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Obesity in Children, Delayed Growth, Autism Spectrum Disorder, and Diarrhea.
Atrium Health Levine Children’s Cancer & Blood Disorders, A Facility Of Carolinas Medical Center
Amy Kelly is a Hematologist and an Oncologist in Charlotte, North Carolina. Ms. Kelly is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Medulloblastoma, Brain Tumor, Pediatric Low-Grade Glioma (pLGG), and Atypical Teratoid Rhabdoid Tumor (ATRT). Ms. Kelly is currently accepting new patients.
Atrium Health Levine Children's HEARTest Yard Congenital Heart Center
Majd Makhoul is a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Makhoul is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are X-Linked Cardiac Valvular Dysplasia, Cardiac Diverticulum, Congenital Heart Disease (CHD), and Congenital Mitral Malformation. Dr. Makhoul is currently accepting new patients.
Atrium Health Levine Children's Sleep Medicine
Stefanie Kienker is a Pediatrics specialist and a Nurse Practitioner in Charlotte, North Carolina. Ms. Kienker is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Marshall-Smith Syndrome, Cantu Syndrome, Hemi 3 Syndrome, and Megalencephaly-Capillary Malformation Syndrome. Ms. Kienker is currently accepting new patients.
ETSU Pediatrics- St. Jude's Clinic
. Dr. Emberesh is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Hereditary Spherocytosis, Evans Syndrome, Febrile Neutropenia, and Dyserythropoietic Anemia and Thrombocytopenia.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.
Johnson City Pediatrics
. Dr. Bullman is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Obesity in Children, Delayed Growth, Croup, and Musculocontractural Ehlers-Danlos Syndrome (mcEDS).
ETSU Pediatrics- St. Jude's Clinic
. Ms. Willocks is rated as an Experienced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Simpson-Golabi-Behmel Syndrome, Megalencephaly-Capillary Malformation Syndrome, Marshall-Smith Syndrome, and Perlman Syndrome.
James Feltes is a primary care provider, practicing in Family Medicine and Internal Medicine in Viroqua, Wisconsin. Dr. Feltes is rated as an Advanced provider by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are Megalencephaly-Capillary Malformation Syndrome, Simpson-Golabi-Behmel Syndrome, Hemi 3 Syndrome, and Perlman Syndrome.
Cleveland Clinic Children's Outpatient Center
Harry Lesmana is a Pediatrics provider in Cleveland, Ohio. Dr. Lesmana has been practicing medicine for over 17 years and is rated as an Advanced provider by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are Cantu Syndrome, Hemi 3 Syndrome, Perlman Syndrome, and Megalencephaly-Capillary Malformation Syndrome.
Rubenstein Child Health Building
Dr. Jill A. Fahrner is an assistant professor in the Departments of Genetic Medicine and Pediatrics at the Johns Hopkins University School of Medicine. Her area of clinical expertise is medical genetics. Dr. Fahrner earned her Ph.D. from Johns Hopkins University and her M.D. from the University of North Carolina. She completed pediatrics residency training at Duke University Medical Center. She joined the McKusick-Nathans Institute of Genetic Medicine as a genetic medicine resident in 2009 and completed her training in 2012. She stayed on as chief resident from 2012-2013 and then joined the faculty as an assistant professor in the Department of Pediatrics within the McKusick-Nathans Institute of Genetic Medicine in 2013. Her current primary appointment is Assistant Professor in the Department of Genetic Medicine, where she is Director of the multidisciplinary Epigenetics and Chromatin Clinic. She is a physician-scientist with a long-standing interest in epigenetic mechanisms of disease. Her clinical focus is on caring for individuals with epigenetic and chromatin disorders, specifically Mendelian disorders of the epigenetic machinery, or chromatin modifying disorders. She has seen hundreds of individuals with congenital disorders involving disrupted epigenetics, most of which exhibit neurodevelopmental disabilities and abnormal growth. Her laboratory research is focused on understanding disease mechanisms and developing therapies for select Mendelian disorders of the epigenetic machinery. She is a member of the American Society of Human Genetics (ASHG), having won an ASHG Reviewer’s Choice Abstract Award for her work on growth retardation in Kabuki syndrome 1. She has received a Johns Hopkins School of Medicine Clinician Scientist Award, a Johns Hopkins School of Medicine Musculoskeletal Pilot and Feasibility Award, a William and Ella Owens Medical Research Foundation Award, the Margaret Ellen Nielsen Fellowship Award, and the Alice and YT Chen Travel Award while at Johns Hopkins. She is the recipient of a prestigious Hartwell Foundation Individual Biomedical Research Award and also has ongoing research funding from the National Institutes of Health. Dr. Fahrner is rated as an Advanced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, and Marshall-Smith Syndrome.
Prisma Health Imaging Center–Greenville
Richard Moretz is a Radiologist in Greenville, South Carolina. Dr. Moretz is rated as an Advanced provider by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are Scoliosis, Knock Knees, Spondylocarpotarsal Synostosis Syndrome, and Caudal Regression Syndrome.
Erica Fernandes is a Medical Genetics specialist and a Pediatrics provider in New Hyde Park, New York. Dr. Fernandes is rated as an Advanced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Microcephaly, Chromosome 13q Deletion, Scalp-Ear-Nipple Syndrome, and Snyder-Robinson Syndrome.
Rachelle Goldfisher is a Pediatric Radiologist and a Radiologist in New Hyde Park, New York. Dr. Goldfisher is rated as an Advanced provider by MediFind in the treatment of Marshall-Smith Syndrome. Her top areas of expertise are Gas Bloat Syndrome, Marshall-Smith Syndrome, Perlman Syndrome, and Cantu Syndrome.
Last Updated: 01/09/2026










