The 20 Best Schwartz-Jampel 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 Schwartz-Jampel 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.

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 Schwartz-Jampel 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.

Atsuhiko Handa is a Pediatric Radiologist practicing medicine in Boston, Massachusetts. He has been practicing medicine for over 18 years. Dr. Handa is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Spondyloepiphyseal Dysplasia Congenita, Schwartz-Jampel Syndrome, Chondrodystrophy, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Bone Marrow Aspiration.

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 Schwartz-Jampel 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.

. Dr. Pahys is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphosis, Adolescent Idiopathic Scoliosis, Spinal Fusion, and Osteotomy. Dr. Pahys is board certified in American Board Of Orthopaedic Surgery.

Mari Mori is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Atlanta, Georgia. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Von Gierke Disease, and Ornithine Transcarbamylase Deficiency. Dr. Mori is currently accepting new patients.

Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.

Alvin Crawford is an Orthopedics provider practicing medicine in Cincinnati, Ohio. Dr. Crawford is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Neurofibromatosis, Kyphosis, Osteotomy, and Spinal Fusion.

Dorothy Grange is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Saint Louis, Missouri. Dr. Grange is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias. Dr. Grange is currently accepting new patients.

Deborah Krakow is a Medical Genetics specialist and an Obstetrics and Gynecologist practicing medicine in Los Angeles, California. Dr. Krakow is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Osteogenesis Imperfecta, Chondrodystrophy, Acromicric Dysplasia, and Spondyloepimetaphyseal Dysplasia Strudwick Type.

Cathleen Raggio is a Pediatric Orthopedics provider practicing medicine in Uniondale, New York. Dr. Raggio is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Osteogenesis Imperfecta, Brachydactyly Mononen Type, Achondroplasia, and Chondrodystrophy. Dr. Raggio is currently accepting new patients.

William Mackenzie is an Orthopedics provider practicing medicine in Wilmington, Delaware. Dr. Mackenzie is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 59 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, Achondroplasia, Osteotomy, and Spinal Fusion.

Shawn Kamps is a Pediatric Radiologist practicing medicine in Seattle, Washington. Dr. Kamps is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Chondrodystrophy, and Brachydactyly Mononen Type.

Dr. David Valle is a professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine and former director of the Johns Hopkins Department of Genetic Medicine. He also serves as a geneticist for the Johns Hopkins Children’s Center. Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty. He is interested in the genetic contributions to health and disease. He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia. Dr. Valle also serves as director of the Predoctoral Training Program in Human Genetics, as well as co-director of the Genes to Society program. He was a 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. Dr. Valle is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita. Dr. Valle is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

William Wilcox is a Medical Genetics provider practicing medicine in Atlanta, Georgia. He has been practicing medicine for over 38 years. Dr. Wilcox is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). Dr. Wilcox is board certified in American Board Of Medical Genetics And Genomics, 1996.

Roger Stevenson is a Medical Genetics provider practicing medicine in Greenwood, South Carolina. Dr. Stevenson is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses VACTERL Association, Micrognathia, Phocomelia, and FG Syndrome. Dr. Stevenson is currently accepting new patients.

I was born in India to a family of doctors, so I did not have to look far for inspiration. I’m married to a pediatric cardiologist, also with duPont Hospital for Children, and I’m grateful for the opportunities I have every day to improve lives for kids and their families. As a father and surgeon, I have a soft spot for helping children in any way I can. It’s a privilege to be able to improve their lives even if there are challenges. I love to see kids getting back to enjoying life to its fullest and being able to help people deal with difficult issues. One of my proudest professional moments was the day I walked into the operating room and had the privilege to start surgically caring for children. I’m still passionate about my work and the opportunities I have every day to improve the lives of kids, one child at a time. The children I treat have serious medical problems, and it takes a whole team of professionals, working in lots of related medical and sociological fields, to make a difference in their lives, and the lives of their families. It’s an honor to be part of that team. At the end of the day, it’s all about the kids. Dr. Thacker is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 66 other conditions, according to our data. Her clinical expertise encompasses Osteochondroma, Knock Knees, Hereditary Multiple Osteochondromas, Chondroblastoma, and Osteotomy. Dr. Thacker is board certified in American Board Of Orthopaedic Surgery.

Harry Ostrer, MD, is Professor, Pathology, Genetics and Pediatrics at Montefiore Einstein. He is a medical geneticist who investigates the genetic basis of common and rare disorders. Dr. Ostrer is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Swyer Syndrome, Turner Syndrome, Intersex, Proctitis, and Gastric Bypass.

Ambroise Wonkam is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Baltimore, Maryland. Dr. Wonkam is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Anemia, Fragile X Syndrome, Pyle Disease, and Micrognathia.

Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.