Michael Bober is a Medical Genetics provider in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is currently accepting new patients.

William Mackenzie is a Pediatric Orthopedics specialist and an Orthopedics provider in Wilmington, Delaware. Dr. Mackenzie is rated as an Elite provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, Achondroplasia, Osteotomy, and Spinal Fusion. Dr. Mackenzie 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 a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

Mary Harty is a Pediatric Radiologist and a Radiologist in Wilmington, Delaware. Dr. Harty is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Caffey Disease, X-Linked Spondyloepiphyseal Dysplasia Tarda, Kniest Dysplasia, and Spondyloenchondrodysplasia.

Robert Cho is an Orthopedics provider in Beverly Hills, California. Dr. Cho has been practicing medicine for over 16 years and is rated as an Experienced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Scoliosis, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Kyphosis, and Spinal Fusion. Dr. Cho is currently accepting new patients.

Amy Middleman is an Adolescent Medicine specialist and a Pediatrics provider in Houston, Texas. Dr. Middleman is rated as an Experienced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Anorexia, Malnutrition, Painful Menstrual Periods, and Tetanus. Dr. Middleman is currently accepting new patients.

Gautam Singh is a Pediatric Cardiologist in Detroit, Michigan. Dr. Singh is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Cantu Syndrome, Premature Infant, High Blood Pressure in Infants, Congenital Heart Disease (CHD), and Heart Transplant.

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 X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Mihir Thacker is an Orthopedics provider in Wilmington, Delaware. Dr. Thacker is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Osteochondroma, Knock Knees, Hereditary Multiple Osteochondromas, Osteotomy, and Spinal Fusion.

Kelly Curran is an Adolescent Medicine specialist and a Pediatrics provider in Oklahoma City, Oklahoma. Dr. Curran is rated as an Experienced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Chondrodystrophy, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Brachydactyly Mononen Type. Dr. Curran is currently accepting new patients.

Sarah Jane Schwarzenberg, MD, is a pediatric gastroenterologist and hepatologist who cares for children with pancreatitis, cystic fibrosis and liver disease. She specializes in performing pediatric liver transplants and total pancreatectomy and islet auto-transplants. Dr. Schwarzenberg is rated as an Experienced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Childhood Pancreatitis, Chronic Pancreatitis, Hereditary Pancreatitis, Pancreatectomy, and Islet Cell Transplantation.

Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.

Alvin Crawford is an Orthopedics provider in Cincinnati, Ohio. Dr. Crawford is rated as an Experienced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Scoliosis, Neurofibromatosis, Kyphosis, Osteotomy, and Spinal Fusion.

Deborah Krakow is a Medical Genetics specialist and an Obstetrics and Gynecologist in Los Angeles, California. Dr. Krakow is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Osteogenesis Imperfecta, Acromicric Dysplasia, Chondrodystrophy, and Spondyloepimetaphyseal Dysplasia Strudwick Type.

Dorothy Grange is a Medical Genetics specialist and a Pediatrics provider in Saint Louis, Missouri. Dr. Grange is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Phenylketonuria (PKU), Clouston Syndrome, Ectodermal Dysplasias, and Aplasia Cutis Congenita. Dr. Grange is currently accepting new patients.

Cathleen Raggio is a Pediatric Orthopedics specialist and an Orthopedics provider in Uniondale, New York. Dr. Raggio is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Osteogenesis Imperfecta, Brachydactyly Mononen Type, Achondroplasia, and Chondrodystrophy.

Atsuhiko Handa is a Pediatric Radiologist in Boston, Massachusetts. Dr. Handa has been practicing medicine for over 18 years and is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Spondyloepiphyseal Dysplasia Congenita, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Chondrodystrophy, and Bone Marrow Aspiration.

Ricki Carroll is a Hospital Medicine specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Carroll is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Thanatophoric Dysplasia, Spondyloepiphyseal Dysplasia, Diastrophic Dysplasia, Acromicric Dysplasia, and Osteotomy. Dr. Carroll is currently accepting new patients.

Howard Saal is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Saal is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Achondroplasia, Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, and Acrofacial Dysostosis Catania Type.

Maura Mcmanus is a Pediatrics provider in Wilmington, Delaware. Dr. Mcmanus has been practicing medicine for over 40 years and is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Mucopolysaccharidoses (MPS), Chondrodystrophy, Early Infantile Epileptic Encephalopathy, and Microcephaly Deafness Syndrome.