The 20 Best Achalasia Microcephaly Syndrome Doctors in The United States
Find the Top Achalasia Microcephaly Syndrome Experts and Specialists
Nemours Children's Hospital, Delaware
Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 70 other conditions, according to our data. His clinical expertise encompasses Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics.
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Christopher Walsh is a Pediatric Neurologist practicing medicine in Boston, Massachusetts. Dr. Walsh is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Polymicrogyria, Microcephaly, Achalasia Microcephaly Syndrome, and Cortical Dysplasia.
Fowzan Alkuraya is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Alkuraya is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 72 other conditions, according to our data. His clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Early Infantile Epileptic Encephalopathy, Cortical Dysplasia, and Vitrectomy.
Fairview Express Care
William Dobyns is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Minneapolis, Minnesota. He has been practicing medicine for over 48 years. Dr. Dobyns is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 46 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Cerebellar Hypoplasia, Cortical Dysplasia, and Lissencephaly. Dr. Dobyns is currently accepting new patients.
Massachusetts General Hospital
Ganeshwaran Mochida is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Mochida is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Microcephaly, Achalasia Microcephaly Syndrome, Cortical Dysplasia, and Pontocerebellar Hypoplasia.
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Joseph Gleeson is a Pediatric Neurologist practicing medicine in San Diego, California. Dr. Gleeson is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Cortical Dysplasia, and Cerebellar Hypoplasia.
Ghayda Mirzaa is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Seattle, Washington. Dr. Mirzaa is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Increased Head Circumference, Cortical Dysplasia, Achalasia Microcephaly Syndrome, and Microcephaly. Dr. Mirzaa is currently accepting new patients.
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Davut Pehlivan is a Pediatric Neurologist practicing medicine in Houston, Texas. Dr. Pehlivan is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Arthrogryposis Multiplex Congenita, Congenital Contractures, Microcephaly, Achalasia Microcephaly Syndrome, and Craniectomy.
Wendy Chung is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Chung is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 54 other conditions, according to our data. Her clinical expertise encompasses Early Infantile Epileptic Encephalopathy, Hypotonia, HNRNPH2-Related Disorder, and Hernia. Dr. Chung is currently accepting new patients.
Advocate Children's Medical Group Genetics
Brad Angle is a Medical Genetics provider practicing medicine in Park Ridge, Illinois. Dr. Angle is rated as an Experienced provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses KBG Syndrome, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Cortical Dysplasia, and Micrognathia. Dr. Angle is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics.
Baylor College Of Medicine - Molec & Human Gen
In my clinical practice, I see adult patients with diagnosed or suspected genetic disease. This includes both chromosomal abnormalities, as well as single gene disorders. I see patients with a variety of disorders, including Tuberous Sclerosis, Neurofibromatosis, connective tissue disease including Ehlers-Danlos syndrome and Marfan syndrome, and familial cancer syndromes. I have a particular clinical interest in patients with cardiopulmonary disease. As a physician-scientist, I have a research focus on postural orthostatic hypotension (POTS) and pulmonary artery hypertension (PAH). Dr. Posey is rated as a Distinguished provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Hypotonia, Achalasia Microcephaly Syndrome, Microcephaly, and Cortical Dysplasia. Dr. Posey is currently accepting new patients.
Boston Children's Hospital
Annapurna Poduri is a Neurologist practicing medicine in Boston, Massachusetts. Dr. Poduri is rated as a Distinguished provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses Epilepsy, West Syndrome, Cortical Dysplasia, and Polymicrogyria.
Emory University
Denise Jamieson is an Obstetrics and Gynecologist practicing medicine in Atlanta, Georgia. Dr. Jamieson is rated as a Distinguished provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Zika Virus Disease, Achalasia Microcephaly Syndrome, Infertility, Intrauterine Device Insertion, and Tubal Ligation.
CUIMC/NewYork-Presbyterian Morgan Stanley Children's Hospital
Alejandro Iglesias, MD is Assistant Professor of Pediatrics, Director of the Inherited Metabolic Program, Program Director of the Medical Genetics Residency program and Attending Physician in the Division of Medical Genetics, Department of Pediatrics at New York Presbyterian Hospital/Columbia University Medical Center. He is a clinical and biochemical geneticist primarily interested in inherited metabolic disorders and neurogenetics and dysmorphology. In his role as Director of the Inherited Metabolic Program he is deeply involved in all aspects related with the diagnosis, management and overall care of patients and families with these disorders. In addition, he is in charge of the education of young physicians and medical students in the field of IMD. As an educator, he is in charge of the medical biochemistry lecture series for the first year medical students at the Physicians & Surgeons Medical School at Columbia University paving the way for a new generations of brilliant medical students at Columbia University. Finally, his involvement with the diagnosis and care of patients with X-linked adrenoleukodystrophy has been one of his main accomplishments in the recent years, especially since the introduction of newborn screening in New York State. He has a been involved from the beginning in the development of the program and is active member of the NYS group of metabolic physicians taking care of these patients. In addtion he has been actively involved in all developments asscoiated with newborn screening for Krabbe disease and Pompe disease. Dr. Iglesias is rated as a Distinguished provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Hypotonia, Microcephaly, Achalasia Microcephaly Syndrome, and Cortical Dysplasia. Dr. Iglesias is board certified in Pediatrics, Clinical Genetics And Genomics (MD), and Clinical Biochemical Genetics. Dr. Iglesias is currently accepting new patients.
Rubenstein Child Health Building
Dr. Julie Hoover-Fong is a Professor of Genetic Medicine and Pediatrics and Director of the Greenberg Center for Skeletal Dysplasias at Johns Hopkins University. Dr. Hoover-Fong holds a bachelor’s degree in Human Nutrition from The Ohio State University, where she also completed her medical degree. She received her Ph.D. in the Graduate Training Program in Clinical Investigation at the Johns Hopkins University School of Medicine and Bloomberg School of Public Health. Dr. Hoover-Fong completed a pediatric internship and residency at Washington University in St. Louis and a fellowship in medical genetics at Johns Hopkins University in Baltimore. She joined the Johns Hopkins University faculty in 2002 and progressed to Professor of Genetic Medicine and Pediatrics in 2019. She practices and oversees the clinical operations, research and educational ventures for the patients, families and healthcare providers served by the Greenberg Center. Her clinical team develops and improves diagnostic and treatment guidelines for comprehensive care of patients with all types of bone conditions including dwarfism, orofacial clefting, craniosynostosis and more. Dr. Hoover-Fong also mentors and teaches medical students, residents and genetic medicine trainees. As an active clinical researcher, Dr. Hoover-Fong is the Principal Investigator of multiple global clinical trials for achondroplasia, the first multi-center, investigator-initiated natural history study for achondroplasia, and multiple clinical studies for patients with orofacial clefting, hypophosphatasia and other conditions. She is also a co-investigator on the ELSI and Phenotype Review Committees for the Mendel Project, a whole exome sequencing venture to identify the genetic cause of Mendelian conditions. From an institutional service perspective, Dr. Hoover-Fong serves on the Johns Hopkins Associate Professor Promotions Committee and the Advisory Committee for the Graduate Training Program in Clinical Investigation. She serves on the Medical Advisory Board of the Little People of America, is a member of the Miller-Coulson Academy of Clinical Excellence at Johns Hopkins University and is a charter member of the International Skeletal Dysplasia Management Consortium, publishing best practice guidelines for patients with skeletal dysplasias. Dr. Hoover is rated as an Advanced provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Rhizomelic Syndrome, Achondroplasia, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy. Dr. Hoover is board certified in American Board Of Medical Genetics And Genomics.
Lenox Baker Children's Hospital
I am a clinical geneticist and a pediatrician with a deep interest in undiagnosed and rare genetic disorders. I provide medical care for children and adults with chromosome 22q11.2 deletion syndrome and diagnostic evaluation for patients with symptoms and signs of genetic disorders, when evaluations have not provided a specific diagnosis. Dr. Shashi is rated as an Advanced provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses DiGeorge Syndrome, Hypotonia, Immune Defect due to Absence of Thymus, and Micrognathia. Dr. Shashi is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics - General.
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 Achalasia Microcephaly Syndrome. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, Marshall-Smith Syndrome, and Orchiectomy. Dr. Fahrner is board certified in American Board Of Medical Genetics And Genomics.
Gynecology And Obstetrics - Nelson/Harvey Building
Jeanne Sheffield is an Infectious Disease specialist and a Neonatologist practicing medicine in Baltimore, Maryland. Dr. Sheffield is rated as an Advanced provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Congenital Syphilis, Placenta Previa, Zika Virus Disease, Achalasia Microcephaly Syndrome, and Hysterectomy. Dr. Sheffield is board certified in American Board Of Obstetrics And Gynecology.
Johns Hopkins Outpatient Center
Dr. Barañano earned her M.D. and Ph.D. degrees from the Johns Hopkins University School of Medicine, where she also completed residencies in pediatrics and neurology, along with a fellowship in neurogenetics at the Kennedy Krieger Institute. Dr. Barañano is an Associate Professor of Clinical Neurology. She specializes in the diagnosis and management of rare neurogenetic disorders. She has a particular interest in the genetic control and function of the cerebellum and expertise in childhood-onset and inherited ataxias. She is a member of the multidisciplinary Fetal Management group and is available for prenatal consultations. Dr. Barañano's research includes collaborative efforts with the Johns Hopkins Department of Genetic Medicine and the Division of Neurogenetics at the Kennedy Krieger Institute. Dr. Baranano is rated as an Advanced provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Hypotonia, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Focal or Multifocal Malformations in Neuronal Migration, and Spinocerebellar Ataxia Type 3. Dr. Baranano is board certified in American Board Of Psychiatry And Neurology.
Duke Health Integrated Practice Inc
I see patients with mitochondrial and lysosomal storage diseases, developmental delay, intellectual disability, chromosomal disorders, congenital defects, short stature, failure to thrive, and adult genetic disorders. I love the application of rapidly growing genetic knowledge to treat patients with a variety of medical problems that involve a complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I find it fascinating to use the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health. In my spare time, I like to hike and play sports with my wife and teenage sons, play piano, and learn famous Russian poetry of the 19th century. I see patients in person and through telehealth. Dr. Niyazov is rated as an Advanced provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Hypotonia. Dr. Niyazov is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics - General.
Last Updated: 04/28/2026










