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    Last Updated: 02/22/2026

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    MediFind found 57 doctor with experience in Microcephaly Deafness Syndrome near Maryland, US. Of these, 50 are Experienced and 7 are Advanced.

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    57 providers found
      Hal C. Dietz
      Advanced in Microcephaly Deafness Syndrome
      Pediatrics | Medical Genetics
      Advanced in Microcephaly Deafness Syndrome
      Pediatrics | Medical Genetics

      Rubenstein Child Health Building

      200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Harry “Hal” Dietz is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research. Recognized as the world’s leading authority on Marfan syndrome, Dr. Dietz conducted genomic mapping and research on therapeutic agents for deficiencies in the genetic protein fibrillin, which is linked to Marfan syndrome. His research contributions have made diagnosis of the condition patient-specific and accurate. He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association. Dr. Dietz is an ad hoc reviewer for 19 different organizations, including the American Journal of Cardiology, the Archives of Pediatric and Adolescent Medicine, and the Journal of Clinical Investigation. Over more than two decades, Dr. Dietz has mentored 75 predoctoral and postdoctoral researchers. He has authored 282 original publications in peer-reviewed journals, 25 textbook chapters, and 239 abstracts, and has also delivered more than 440 lectures on Marfan syndrome and related genetic disorders. Dr. Dietz completed his B.S. at Duke University and received his M.D. from the SUNY Upstate School of Medicine. He completed a pediatric residency and a cardiology fellowship at Johns Hopkins University before joining the faculty in 1992. Dr. Dietz is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Snyder-Robinson Syndrome, Abruzzo-Erickson Syndrome, Costello Syndrome, and WAGR Syndrome.

      Nara L. De Macena Sobreira
      Advanced in Microcephaly Deafness Syndrome
      Medical Genetics | Pediatrics
      Advanced in Microcephaly Deafness Syndrome
      Medical Genetics | Pediatrics

      Rubenstein Child Health Building

      Baltimore, MD 
      Languages Spoken:
      English, Portuguese

      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 Microcephaly Deafness Syndrome. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

      Julie E. Hoover
      Advanced in Microcephaly Deafness Syndrome
      Pediatrics | Medical Genetics
      Advanced in Microcephaly Deafness Syndrome
      Pediatrics | Medical Genetics

      Rubenstein Child Health Building

      200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
      Baltimore, MD 
      Languages Spoken:
      English

      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 Microcephaly Deafness Syndrome. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

      Learn about our expert tiers
      Advanced in Microcephaly Deafness Syndrome
      Advanced in Microcephaly Deafness Syndrome

      Kennedy Krieger Institute

      707 North Broadway, Neurology And Developmental Med, Neurology And Developmental Med, 
      Baltimore, MD 
      Languages Spoken:
      English, Spanish

      Dr. Jaqueline Weissman is an assistant professor in the Department of Neurology, Kennedy Krieger Institute, Department of Pediatrics Johns Hopkins Hospital and Institute of Genomic Medicine at Johns Hopkins Hospital. She is also director of the Center for Tuberous Sclerosis and Related Disorder at Kennedy Krieger Institute. She focuses on genetic and epigenetic causes of neurodevelopmental disorders - particularly intellectual disability - and how specific genetic and epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for trials and to help localize deficits. Currently most of her research is centered around Kabuki Syndrome. Dr. Weissman received her B.A. with. Dr. Harris is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Odontotrichomelic Syndrome, Kabuki Syndrome, 3MC Syndrome, and Coffin-Lowry Syndrome.

      Advanced in Microcephaly Deafness Syndrome
      Pediatric Neurology
      Advanced in Microcephaly Deafness Syndrome
      Pediatric Neurology

      The Kennedy Krieger Institute

      Baltimore, MD 
      Languages Spoken:
      English

      After completing her bachelors of science degree in biochemistry from the City College of New York (CUNY), Dr. Smith-Hicks entered the Medical Scientist Training Program at Columbia University College of Physicians and Surgeons, where she obtained her M.D., Ph.D. in 2000. She trained in Pediatrics at the Albert Einstein College of Medicine and completed her Neurology and Pediatric Neurology training at the Johns Hopkins University School of Medicine in 2005. Dr. Smith-Hicks trained as a post-doctoral fellow in the Department of Neuroscience at Johns Hopkins University School of Medicine under the guidance of Dr. Paul Worley. She joined the faculty at Kennedy Krieger Institute in 2010 where she now sees patients with Autism Spectrum Disorder and Rett Syndrome, while conducting basic science research exploring disorders of learning and memory. Dr. Smith is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Rett Syndrome, Ruvalcaba Syndrome, Autism Spectrum Disorder, and Early Infantile Epileptic Encephalopathy.

      Kristin Baranano
      Experienced in Microcephaly Deafness Syndrome
      Pediatric Neurology | Neurology
      Experienced in Microcephaly Deafness Syndrome
      Pediatric Neurology | Neurology

      Johns Hopkins Outpatient Center

      601 North Caroline Street, Floor 5, Floor 5, 
      Baltimore, MD 
      Languages Spoken:
      English

      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 Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Hypotonia, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Focal or Multifocal Malformations in Neuronal Migration, and Hereditary Ataxia.

      Natario L. Couser
      Experienced in Microcephaly Deafness Syndrome
      Ophthalmology
      Experienced in Microcephaly Deafness Syndrome
      Ophthalmology

      Howard County Medical Pavilion

      10710 Charter Drive, Suite 310, Suite 310, 
      Columbia, MD 
      Languages Spoken:
      English
      Offers Telehealth

      Dr. Couser obtained his bachelor’s degree from the University of Virginia and his Medical Doctorate from the Virginia Commonwealth University School of Medicine (VCU SOM). Dr. Couser’s ophthalmology residency was completed at Howard University where he served as co-chief resident in the last year of his residency. He received fellowship training in pediatric ophthalmology and adult strabismus at Emory University. Dr. Couser received a master’s degree in biotechnology from the Johns Hopkins University and completed a residency in clinical genetics at the University of North Carolina at Chapel Hill. He is one of only a few individuals currently board-certified by both the American Board of Ophthalmology and the American Board of Medical Genetics and Genomics. CV https://www.hopkinsmedicine.org/-/media/wilmer/documents/cvs/couser-cv Research Summary My primary research focus involves the identification and management of genetic eye diseases including rare inherited disorders affecting the eyes. Research and scholarly activities have been an integral component of my career path. I have been the principal investigator on 10 clinical trial/IRB studies and a co-investigator on others, participated with several committees or advisory panels related to research activities. I have been credited with over 120 book chapter, journal article and abstract publications. In addition, I served as the primary author/sole editor for a textbook titled Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 1st Edition, published by Elsevier in 2018, which is one of only a few textbooks published in this subject area. I also served as a grant review panelist for the National Eye Institute Career Development Awards. Selected Publications *Couser NL, Masood MM, Strande NT, Foreman AKM, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. 2015. The phenotype of multiple congenital anomalies- hypotonia-seizures syndrome 1: Report and review. Am J Med Genet Part A 9999A:1–6 *Couser NL, Lambert SR. Botulinum toxin: A treatment of consecutive esotropia in children. Strabismus 2012; 20(4):158-161 Couser NL, Lenhart PD, Hutchinson AK. Augmented Hummelsheim procedure to treat complete abducens nerve palsy. J AAPOS 2012;16(4):331-5 *Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth, and Roger E. Stevenson. Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 2017, Jan 23:1-12 *Couser NL, Brooks BP, Drack AV, Shankar SP. The evolving role of genetics in ophthalmology. Ophthalmic Genet. 2021 Jan 12:1-4. doi: 10.1080/13816810.2020.1868011. Dr. Couser is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Epicanthal Folds, Strabismus, Brown Syndrome, and Hypotonia.

      Mihee J. Bay
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics

      Kennedy Krieger Institute

      801 North Broadway, Room 560, Room 560, 
      Baltimore, MD 
      Languages Spoken:
      English, Korean

      Mihee Bay is a Pediatrics provider in Baltimore, Maryland. Dr. Bay is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Autism Spectrum Disorder, Delayed Growth, Wildervanck Syndrome, and Early Infantile Epileptic Encephalopathy.

      Jennifer Pardo
      Experienced in Microcephaly Deafness Syndrome
      Experienced in Microcephaly Deafness Syndrome

      Johns Hopkins Children's Center

      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Jennifer Pardo Habashi is an assistant professor of pediatrics at the Johns Hopkins University School of Medicine. Her research focuses on cardiology. Dr. Habashi provides genetic cardiology services at the Center for Inherited Heart Disease at the Johns Hopkins Heart and Vascular Institute. She is currently evaluating the effectiveness of medications for the treatment of Marfan syndrome. Dr. Habashi received her undergraduate degree from Brown University. She earned her M.D. from the University of Maryland Medical School. She completed residencies at Montefiore Medical Center and Johns Hopkins. She performed a fellowship in pediatric cardiology at Johns Hopkins. Her work has been recognized with several awards, including a grant from the National Marfan Foundation for her research to help reduce the risks associated with pregnancy for women with Marfan syndrome. Dr. Pardo is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Congenital Contractural Arachnodactyly, Marfan Syndrome, Arachnodactyly, and Vici Syndrome.

      Hilary J. Vernon
      Experienced in Microcephaly Deafness Syndrome
      Medical Genetics
      Experienced in Microcephaly Deafness Syndrome
      Medical Genetics

      Rubenstein Child Health Building

      Baltimore, MD 
      Languages Spoken:
      English, Spanish

      Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.

      Laura H. Brown
      Experienced in Microcephaly Deafness Syndrome
      Internal Medicine
      Experienced in Microcephaly Deafness Syndrome
      Internal Medicine

      Johns Hopkins Community Physicians - North Bethesda

      6000 Executive Boulevard, Suite 625, Suite 625, 
      Rockville, MD 
      Languages Spoken:
      English
      Offers Telehealth

      Laura Brown, M.D., practices internal medicine at Johns Hopkins Community Physicians North Bethesda. She received her medical degree from Harvard Medical School, and also completed her residency in internal medicine at Bellevue Hospital Center. Dr. Brown is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are High Cholesterol, Familial Combined Hyperlipidemia, Xanthoma, and Cirrhosis.

      Eric Chin
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics | Pediatric Neurology
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics | Pediatric Neurology

      Kennedy Krieger Institute

      801 North Broadway, 
      Baltimore, MD 
      Languages Spoken:
      English

      Pediatric neurologist Eric Chin, a clinician-scientist with expertise in cerebral palsy and related neurodevelopmental disabilities, directs research at the Phelps Center for Cerebral Palsy at Kennedy Krieger Institute. After earning his medical degree from the University of Tennessee Health Science Center College of Medicine, Dr. Chin completed residency training in pediatrics at Our Lady of the Lake Regional Medical Center in Louisiana and at Penn State Hershey Medical Center. He completed neurodevelopmental disabilities training at Kennedy Krieger Institute, as well as a T32 research fellowship and a National Institute of Neurological Disorders and Stroke NeuroNEXT-supported clinical trials fellowship. Dr. Chin researches brain- and behavior-based pain mechanisms and treatment targets in children and adults with cerebral palsy. Seeking to define the consequences of brain injury patterns across functional domains, he leads ongoing studies combining participant and caregiver input; evaluations of sensation, movement and cognition; and MRI-based assessments of brain structure and function. Ultimately, he hopes to develop evidence-based individualized pain treatment plans that can improve quality of life of individuals with cerebral palsy. Dr. Chin is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Aphantasia, Orofaciodigital Syndrome 6, Cerebellar Agenesis, and Hydranencephaly.

      Grant J. Anhalt
      Experienced in Microcephaly Deafness Syndrome
      Experienced in Microcephaly Deafness Syndrome

      Johns Hopkins Outpatient Center

      601 North Caroline Street, Floor 8, Floor 8, 
      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Grant Anhalt is a professor of dermatology at the Johns Hopkins University School of Medicine. His areas of clinical expertise include autoimmune skin diseases and dermatoimmunology. Dr. Anhalt serves as the director of the Dermatoimmunology Laboratory at the Johns Hopkins School of Medicine. He received his undergraduate degree and his M.D. from the University of Manitoba. He completed a residency in internal medicine at the Health Sciences Center in Winnipeg, Canada and a residency in dermatology at the University of Michigan. He performed a fellowship in immunodermatology at the University of Michigan Medical Center. Dr. Anhalt joined the Johns Hopkins faculty in 1982. He was interim chair of the Department of Dermatology from 1996 to 2001. His research interests include autoimmunity, bullous skin diseases and pemphigus and pemphigoid. Dr. Anhalt serves on the medical advisory board for the International Pemphigus & Pemphigoid Foundation. He has been recognized as a top doctor in the Washington Post Magazine, Baltimore Magazine and Castle Connolly Guide. He is a member of several professional organizations, including the American Academy of Dermatology, American Dermatologic Association and American Society for Clinical Investigation. CV http://www.hopkinsmedicine.org/dermatology/our_experts/CV/Anhalt_CV_2014.docx. Dr. Anhalt is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Pemphigus Vulgaris, Pemphigus, Pemphigus Foliaceus, and Bullous Pemphigoid.

      Heather Brown
      Experienced in Microcephaly Deafness Syndrome
      Palliative Medicine
      Experienced in Microcephaly Deafness Syndrome
      Palliative Medicine

      The Johns Hopkins Hosptial

      1800 Orleans Street, Bloomberg CC Suite 9402, Bloomberg CC Suite 9402, 
      Baltimore, MD 
      Languages Spoken:
      English

      Heather Brown is a Palliative Medicine provider in Baltimore, Maryland. Dr. Brown is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, Koolen De Vries Syndrome, and Microcephaly Deafness Syndrome.

      Laura M. Sterni
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics | Pediatric Pulmonology
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics | Pediatric Pulmonology

      Mount Washington Pediatric Hospital

      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Laura Sterni is an associate professor of pediatrics at the Johns Hopkins University School of Medicine. Her areas of clinical expertise include pediatric pulmonary medicine and sleep disorders. She is director of the Johns Hopkins Pediatric Sleep Center. Dr. Sterni has edited a book on chronic home ventilation in children - Caring for Ventilator Dependent Child: A Clinical Guide. (Sterni. LM and Carroll JL (Eds). Humana Press/Springer Science and Business Media, New York, 2016.) Dr. Sterni received her medical degree from the Johns Hopkins University School of Medicine. She also completed her residency in pediatrics and her fellowship in pediatric pulmonary medicine at Johns Hopkins. De. Sterni was recognized by Baltimore magazine as a Top Doctor in pediatric pulmonology in 2008, 2009, 2010, 2011, 2012, 2013, 2015, 2016 and 2017. She was also recognized in 2016 and 2017 as a Top Doc for the treatment of pediatric sleep disorders. Dr. Sterni is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Micrognathia, Wildervanck Syndrome, Koolen De Vries Syndrome, Microcephaly Deafness Syndrome, and Adenoidectomy.

      Gerald V. Raymond
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics | Medical Genetics
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics | Medical Genetics

      Rubenstein Child Health Building

      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Gerald Raymond is a clinical geneticist and neurologist at Johns Hopkins where he is also a professor of genetic medicine and neurology. He obtained his MD at the University of Connecticut and was trained in Pediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital. He received additional training in developmental neuropathology at the Universite Catholique de Louvain in Belgium and clinical genetics at the Harvard Program. Dr. Raymond’s research has been at the overlap of genetics and neurology with specific focus on peroxisomal disorders including adrenoleukodystrophy. He has been actively involved in newborn screening for ALD and in developing clinical follow-up programs. He has extensive experience in clinical management of neurogenetic issues including peroxisomal and lysosomal disorders. He presently serves as the Director of the Lysosomal Storage Disease program in the department of Genetic Medicine. Dr. Raymond is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Adrenoleukodystrophy (ALD), Leukodystrophy, Pelizaeus-Merzbacher Disease, and Alexander Disease.

      John C. Probasco
      Experienced in Microcephaly Deafness Syndrome
      Experienced in Microcephaly Deafness Syndrome

      Johns Hopkins Outpatient Center

      Baltimore, MD 
      Experience:
      18+ years
      Languages Spoken:
      English, German
      Offers Telehealth

      Dr. Probasco is a professor at the Johns Hopkins University School of Medicine Department of Neurology. He is the Vice Chair for Quality, Safety, and Service for the department. He also serves as the Director of the Johns Hopkins Division of Advanced Clinical Neurology as well as the Medical Director of the Johns Hopkins Inpatient General Neurology Service. He co-directs the Johns Hopkins Encephalitis Center and the Johns Hopkins Center for Refractory Status Epilepticus and Neuroinflammation. He cares for general neurology inpatients and outpatients, specializing in autoimmune and paraneoplastic syndromes as well as neurological immune-related adverse events following immunotherapies for cancer. After completing his undergraduate studies in biochemistry at the University of New Mexico, Dr. Probasco attended the University of Oxford as a Rhodes Scholar and earned a second undergraduate degree in psychology, philosophy and physiology. He went on to earn his medical degree at the University of California, San Francisco. He completed an internship in internal medicine at Johns Hopkins Bayview Medical Center and a residency in neurology at Johns Hopkins, where he was the faculty liaison/executive chief resident. He went on to complete an instructorship in inpatient general neurology at Johns Hopkins. Dr. Probasco’s research interests include increasing care value through improving outcomes, incorporation of patient experience of disease and treatment, the efficiency of care delivery, and diagnostic test utilization in general and specifically in relation to autoimmune and paraneoplastic neurological syndromes, including encephalitis. Finally, he is interested in the management of neurological immune-related adverse events following immunotherapies for the treatment of cancer. Dr. Probasco has been recognized at the departmental, institutional, and national levels for teaching and clinical excellence, including the American Academy of Neurology’s A.B. Baker Teacher Recognition Award and the Frank L. Coulson, Jr. Award from the Johns Hopkins Medicine Miller-Coulson Academy of Clinical Excellence. He is a past graduate of the Johns Hopkins Armstrong Institute Resident Scholars (AIRS) program in Patient Safety and Quality. As a faculty member, he was inducted into the Miller-Coulson Academy of Clinical Excellence in 2019. He serves as Editor-in-Chief of NEJM Journal Watch Neurology. Videos The impact of COVID-19 on the Department of Neurology‚Äôs clinical care and medical education programs. Dr. Probasco is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Encephalitis, Anti-NMDA Receptor Encephalitis, Status Epilepticus, Creutzfeldt-Jakob Disease, and Gastrostomy.

      Eugene Park
      Experienced in Microcephaly Deafness Syndrome
      Dermatology
      Experienced in Microcephaly Deafness Syndrome
      Dermatology

      Johns Hopkins Outpatient Center

      Baltimore, MD 
      Languages Spoken:
      English

      Eugene Park is a Dermatologist in Baltimore, Maryland. Dr. Park is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Nijmegen Breakage Syndrome, Currarino Triad, Birt-Hogg-Dube Syndrome, and Branchiootorenal Syndrome.

      Ada Hamosh
      Experienced in Microcephaly Deafness Syndrome
      Medical Genetics | Pediatrics
      Experienced in Microcephaly Deafness Syndrome
      Medical Genetics | Pediatrics

      Rubenstein Child Health Building

      200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

      Siddharth S. Gupta
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics | Pediatric Neurology
      Experienced in Microcephaly Deafness Syndrome
      Pediatrics | Pediatric Neurology

      Kennedy Krieger Institute

      707 North Broadway, 
      Baltimore, MD 
      Languages Spoken:
      English, Bengali, Hindi, Marathi

      I am a pediatric neurologist with expertise in epilepsy and electroencephalography (EEG). My clinical and research interests include genetics of epilepsy, medical management of patients with intractable epilepsy and presurgical evaluation of patients who are candidates for epilepsy surgery. Dr. Gupta is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Benign Rolandic Epilepsy, Lennox-Gastaut Syndrome (LGS), Seizures, and Memory Loss.

      Showing 1-20 of 57

      Last Updated: 02/22/2026

      What is the definition of Microcephaly Deafness Syndrome?

      Microcephaly deafness syndrome, also known as microcephaly-deafness-intellectual disability syndrome, is a very rare inherited (genetic) disorder characterized by an abnormally small head (microcephaly), deafness, intellectual deficit, and abnormal facial characteristics, such as asymmetrical features.

      When should I see a Microcephaly Deafness Syndrome doctor in Maryland, US?

      There are various reasons why you may want to see a specialist, such as: 

      • Your primary care provider recommends it. 
      • Your condition requires expert knowledge and specialized care. 
      • Your symptoms persist or worsen despite treatment. 
      • You need specialized testing or procedures. 
      • You want a second opinion.  

      What should I consider when choosing a Microcephaly Deafness Syndrome doctor in Maryland, US?

      It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

      How does MediFind rank Microcephaly Deafness Syndrome doctors in Maryland, US?

      MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

      What types of insurance are accepted by Microcephaly Deafness Syndrome doctors in Maryland, US?

      Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

      How can I book an appointment online with a Microcephaly Deafness Syndrome doctor in Maryland, US?

      MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Microcephaly Deafness Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Microcephaly Deafness Syndrome doctor?

      Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

      How can I prepare for my appointment with a Microcephaly Deafness Syndrome doctor in Maryland, US?

      Prepare for your appointment by gathering the following items: 

      • Copies of medical records (dating back at least one year) 
      • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
      • Family history of disease 
      • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
      • Allergies to medications, food, latex, insects, etc.  
      • List of questions and concerns 
      • Your insurance card 

      You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

      What questions should I ask my Microcephaly Deafness Syndrome doctor?

      Here are some sample questions: 

      • Can you explain in simple terms what this condition is and how it’s treated? 
      • What symptoms or side effects should I watch for? 
      • What tests will be involved, and when can I expect results? 
      • Are there other specialists I need to see? 
      • What’s the best way to reach you if I have follow-up questions? 

      How can I learn about the latest clinical trials and research advances my Microcephaly Deafness Syndrome doctor may know about?

      MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

      MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

      Can I filter my search to show male or female Microcephaly Deafness Syndrome doctors in Maryland, US?

      Look for the filter feature on the left side of the Microcephaly Deafness Syndrome doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

      Can I filter my search to find a Microcephaly Deafness Syndrome doctor that offers video calls?

      Look for the filter feature on the left-side of the Microcephaly Deafness Syndrome doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

      Reviewed on: 11/11/24  

      By: MediFind Medical Staff 

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