MediFind found 1394 doctor with experience in Kabuki Syndrome. Of these, 1126 are Experienced, 224 are Advanced, 27 are Distinguished and 17 are Elite.
Siddharth Banka practices in Manchester, United Kingdom. Mr. Banka is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Increased Head Circumference, Robinow Syndrome, and Achalasia Microcephaly Syndrome.
Giuseppe Merla practices in Foggia, Italy. Mr. Merla is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Williams Syndrome, Supravalvular Aortic Stenosis, and Chromosome 4q Duplication.
Dina Schott practices in Heerlen, Netherlands. Ms. Schott is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Kabuki Syndrome, Pediatric Growth Hormone Deficiency, Growth Hormone Deficiency (GHD), Hypopituitarism, and Hormone Replacement Therapy (HRT).
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Olaf Bodamer is a Medical Genetics provider in Boston, Massachusetts. Dr. Bodamer is rated as an Elite provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Niemann-Pick Disease, Classic Galactosemia, and Mucopolysaccharidoses (MPS). Dr. Bodamer is currently accepting new patients.
Noriko Miyake practices in Tokyo, Japan. Ms. Miyake is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Coffin-Siris Syndrome, Kabuki Syndrome, Ehlers-Danlos Syndrome (EDS), Fasciotomy, and Bone Marrow Transplant.
Naomichi Matsumoto practices in Kawaguchi, Japan. Matsumoto is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Their top areas of expertise are West Syndrome, Coffin-Siris Syndrome, Neuronal Intranuclear Inclusion Disease (NIID), Gastrostomy, and Pancreaticoduodenectomy.
David Genevieve practices in Montpellier, France. Mr. Genevieve is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Mosaicism, KBG Syndrome, and Microcephaly.
Stanislas Lyonnet practices in Paris, France. Lyonnet is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Their top areas of expertise are Micrognathia, Kabuki Syndrome, Hirschsprung Disease, and Treacher Collins Syndrome.
Sara Cuvertino practices in Manchester, United Kingdom. Ms. Cuvertino is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Kabuki Syndrome, Micrognathia, Bazex Syndrome, and Coloboma.
Maria Gnazzo practices in Rome, Italy. Ms. Gnazzo is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are KBG Syndrome, Kabuki Syndrome, Bone Dysplasia Corpus Callosum Agenesis, and Ventricular Septal Defects.
Maria Digilio practices in Rome, Italy. Ms. Digilio is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are KBG Syndrome, Kabuki Syndrome, Partial Atrioventricular Canal, and Noonan Syndrome.
Victor Faundes practices in Santiago, Chile. Mr. Faundes is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Fragile X Syndrome, Mosaicism, and Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia.
Constance Stumpel practices in Maastricht, Netherlands. Ms. Stumpel is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Kabuki Syndrome, Triple X Syndrome, Floating-Harbor Syndrome, and Increased Head Circumference.
Adam Stevens practices in Manchester, United Kingdom. Mr. Stevens is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Turner Syndrome, Pediatric Growth Hormone Deficiency, and Growth Hormone Deficiency (GHD).
Susan Kimber practices in Manchester, United Kingdom. Ms. Kimber is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Kabuki Syndrome, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Deafness Craniofacial Syndrome, and Choanal Atresia.
Terence Garner practices in Manchester, United Kingdom. Mr. Garner is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Pediatric Growth Hormone Deficiency, Growth Hormone Deficiency (GHD), and Small for Gestational Age.
Hans Bjornsson is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Bjornsson is rated as an Elite provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Weaver Syndrome, 3MC Syndrome, Stickler Syndrome, and Orchiectomy. Dr. Bjornsson is currently accepting new patients.
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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 a Distinguished provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, and Marshall-Smith Syndrome.
Abingdon Internal Medicine
. Dr. Jonkers is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Lung Metastases, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.
Last Updated: 02/22/2026
