MediFind found 231 doctor with experience in Schwartz-Jampel Syndrome near The United States. Of these, 204 are Experienced, 20 are Advanced, 6 are Distinguished and 1 are Elite.
Michael Bober is a Medical Genetics provider in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Schwartz-Jampel Syndrome. 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.
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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. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.
State University Of Iowa
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 Schwartz-Jampel Syndrome. 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 Schwartz-Jampel Syndrome. His top areas of expertise are Scoliosis, Neurofibromatosis, Kyphosis, Osteotomy, and Spinal Fusion.
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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 Schwartz-Jampel Syndrome. Her top areas of expertise are Osteogenesis Imperfecta, Acromicric Dysplasia, Chondrodystrophy, and Spondyloepimetaphyseal Dysplasia Strudwick Type.
Washington University
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 Schwartz-Jampel Syndrome. 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 Schwartz-Jampel Syndrome. Her top areas of expertise are Osteogenesis Imperfecta, Brachydactyly Mononen Type, Achondroplasia, and Chondrodystrophy.
William Mackenzie is a Pediatric Orthopedics specialist and an Orthopedics provider in Wilmington, Delaware. Dr. Mackenzie is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. 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.
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Atsuhiko Handa is a 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 Schwartz-Jampel Syndrome. His top areas of expertise are Spondyloepiphyseal Dysplasia Congenita, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Chondrodystrophy, and Bone Marrow Aspiration.
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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. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.
Richard Pauli is a Medical Genetics provider in Madison, Wisconsin. Dr. Pauli is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Achondroplasia, Spondyloepimetaphyseal Dysplasia Strudwick Type, X-Linked Spondyloepiphyseal Dysplasia Tarda, Adenoidectomy, and Myringotomy.
Cornelius Boerkoel is a Medical Genetics provider in Sioux Falls, South Dakota. Dr. Boerkoel is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Snyder-Robinson Syndrome, Schwartz-Jampel Syndrome, Chondrodystrophy, and X-Linked Spondyloepiphyseal Dysplasia Tarda.
Joan Marini is a Medical Genetics provider in Bethesda, Maryland. Dr. Marini is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Osteogenesis Imperfecta, Kyphomelic Dysplasia, Congenital Bowing of Long Bones, and Brachydactyly Mononen Type.
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Dan Zlotolow is a Hand Surgeon and an Orthopedics provider in New York, New York. Dr. Zlotolow is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Brachial Plexopathy, Arthrogryposis Multiplex Congenita, Congenital Contractures, Osteotomy, and Bone Graft. Dr. Zlotolow is currently accepting new patients.
Klane White is a Pediatric Orthopedics specialist and an Orthopedics provider in Aurora, Colorado. Dr. White is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Achondroplasia, Brachydactyly Mononen Type, Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Osteotomy, and Spinal Fusion.
University Of Utah Pediatric Services
Lorenzo Botto is a Medical Genetics specialist and a Pediatrics provider in Salt Lake City, Utah. Dr. Botto is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Gastroschisis, Omphalocele, Increased Head Circumference, and Schwartz-Jampel Syndrome. Dr. Botto is currently accepting new patients.
Eric Rush is a Medical Genetics specialist and a Pediatrics provider in Westwood, Kansas. Dr. Rush is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Hypophosphatasia (HPP), Osteogenesis Imperfecta, Zellweger Syndrome, X-Linked Hypophosphatemia, and Osteotomy.
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Michael Bamshad is a Medical Genetics specialist and a Pediatrics provider in Seattle, Washington. Dr. Bamshad is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Distal Arthrogryposis Type 6, Distal Arthrogryposis, Congenital Contractures, and Arthrogryposis Multiplex Congenita. Dr. Bamshad is currently accepting new patients.
Jacqueline Hecht is a Medical Genetics provider in Houston, Texas. Dr. Hecht is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Pseudoachondroplasia, Achondroplasia, Cleft Lip and Palate, Adenoidectomy, and Myringotomy.
Shawn Kamps is a Pediatric Radiologist and a Radiologist in Seattle, Washington. Dr. Kamps is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Chondrodystrophy, and Brachydactyly Mononen Type.
Last Updated: 01/09/2026