The 20 Best Achalasia Microcephaly Syndrome Doctors in The United States

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.

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.

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.

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.

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.

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.

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.

Susan Massengill is a Pediatric Nephrologist and a Pediatrics provider practicing medicine in Charlotte, North Carolina. Dr. Massengill is rated as an Experienced provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Nephrotic Syndrome, Focal Segmental Glomerulosclerosis, Minimal Change Disease, Glomerulonephritis, and Kidney Transplant. Dr. Massengill is board certified in American Board Of Pediatrics, Pediatric Nephrology. Dr. Massengill is currently accepting new patients.

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.

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.

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.

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.

Lakshmi Mehta is a Medical Genetics provider practicing medicine in New York, New York. Dr. Mehta is rated as a Distinguished provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Hypotonia, and Acromicric Dysplasia. Dr. Mehta is currently accepting new patients.

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.

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.

Sonja Rasmussen, MD, MS is Professor in the Department of Genetic Medicine at Johns Hopkins School of Medicine. She joined Johns Hopkins after 4 years at the University of Florida (UF) College of Medicine and College of Public Health and Health Professions where she served as a Professor in the Departments of Pediatrics, Epidemiology, and Obstetrics and Gynecology and as the Director of UF’s Precision Health Program. Before joining University of Florida in 2018, she served for 20 years at the Centers for Disease Control and Prevention (CDC) in Atlanta, where she held several scientific leadership roles. She served in leadership roles during several CDC responses to public health emergencies, including 2009 H1N1 influenza, H7N9 influenza, Middle East Respiratory Syndrome (MERS), and Zika virus. Dr. Rasmussen is an author on >300 peer-reviewed publications and is the lead editor of The CDC Field Epidemiology Manual, released by Oxford University Press in 2019. Her research interests focus on understanding the effects of infections and medications during pregnancy, genetic and environmental risk factors for birth defects, and morbidity and mortality associated with genetic conditions. Dr. Rasmussen is rated as an Advanced provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Cortical Dysplasia, Gastroschisis, and Knee Replacement. Dr. Rasmussen is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

Dr. Nara Lygia De Macena Sobreira is an assistant professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. During her Ph.D., she worked with Dr. David Valle using next-generation sequencing to elucidate the molecular basis of rare Mendelian phenotypes and in 2010 she discovered PTPN11 as the gene responsible for metachondromatosis by using whole-genome sequencing. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome), and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She participated on the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data. She has also worked extensively on functional studies that evaluate the possible pathogenic effects of the candidate causative variants. Recent News Articles and Media Coverage Living the Hopkins Mission Honorees, Johns Hopkins Medicine Successes in Characterizing Genes through GeneMatcher with Nara L. M. Sobreira, MD, PhD, Ambry Genetics (April 30, 2018) Enfermedades raras: el desafio es encontrar otros pacientes que tienen el mismo mal, Lun (26 de septiembre de 2019) 2021 Science Writers' Boot Camp, Johns Hopkins Medicine (June 7, 2021) Making the Perfect Match, Johns Hopkins Medicine (February 1, 2020). Dr. De Macena Sobreira is rated as an Advanced provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy. Dr. De Macena Sobreira is board certified in American Board Of Medical Genetics And Genomics.