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.

Pelin Kiper-Simsek practices in Ankara, Turkey. Ms. Kiper-Simsek is rated as an Elite expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Chondrodystrophy, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Brachydactyly Mononen Type.

Katta Girisha practices in Manipala, India. Girisha is rated as an Elite expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Their top areas of expertise are Pyle Disease, Brachydactyly Mononen Type, Arthrogryposis Multiplex Congenita, and Congenital Contractures.

Khalid Mehmood practices in Lahore, Pakistan. Mr. Mehmood is rated as an Elite expert by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Schwartz-Jampel Syndrome, Chondrodystrophy, X-Linked Spondyloepiphyseal Dysplasia Tarda, Microdiscectomy, and Herniated Disc Surgery.

Svetlana Vakkilainen practices in Helsinki, Finland. Ms. Vakkilainen is rated as an Elite expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Cartilage-Hair Hypoplasia, Schwartz-Jampel Syndrome, Chondrodystrophy, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

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.

Stephen Robertson practices in Dunedin, New Zealand. Mr. Robertson is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Periventricular Heterotopia, Frontometaphyseal Dysplasia, Osteopathia Striata Cranial Sclerosis, and Micrognathia.

Elina Holopainen practices in Helsinki, Finland. Ms. Holopainen is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Cartilage-Hair Hypoplasia, Autoimmune Polyglandular Syndrome Type 2, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), Schwartz-Jampel Syndrome, and Hormone Replacement Therapy (HRT).

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.

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.

Valerie Daire-Cormier practices in Paris, France. Ms. Daire-Cormier is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Myhre Syndrome, Achondroplasia, Brachydactyly Mononen Type, Polydactyly, and Adenoidectomy.

Ali Jahejo practices in Jinzhong, China. Jahejo is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Their top areas of expertise are Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Chondrodystrophy, and Brachydactyly Mononen Type.

Outi Makitie practices in Stockholm, Sweden. Makitie is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Their top areas of expertise are Cartilage-Hair Hypoplasia, Autoimmune Polyglandular Syndrome Type 2, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), Osteogenesis Imperfecta, and Hormone Replacement Therapy (HRT).

Olivier Vanakker practices in Gent, Belgium. Mr. Vanakker is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Pseudoxanthoma Elasticum, Cutis Laxa, Acropectoral Syndrome, and Acro-Pectoro-Renal Field Defect.

Jia-kui Li-Jiakui practices in Songbai, China. Li-Jiakui is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Their top areas of expertise are X-Linked Spondyloepiphyseal Dysplasia Tarda, Schwartz-Jampel Syndrome, Chondrodystrophy, and Brachydactyly Mononen Type.

Andrea Furga-Superti practices in Lausanne, Switzerland. Ms. Furga-Superti is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Diastrophic Dysplasia, Achondrogenesis, Acromesomelic Dysplasia, and Acromesomelic Dysplasia Campailla Martinelli Type.

Ravi Savarirayan practices in Parkville, Australia. Mr. Savarirayan is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are Achondroplasia, Acanthosis Nigricans, Chondrodystrophy, and Schwartz-Jampel Syndrome.

Karen Heath practices in Madrid, Spain. Ms. Heath is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. Her top areas of expertise are Short Stature (Growth Disorders), Brachydactyly, Brachydactyly Mononen Type, and Leri-Weill Dyschondrosteosis.

Philippe Campeau practices in Montreal, Canada. Mr. Campeau is rated as a Distinguished expert by MediFind in the treatment of Schwartz-Jampel Syndrome. His top areas of expertise are DOOR Syndrome, Craniofacial-Deafness-Hand Syndrome, Micrognathia, and Deafness Craniofacial Syndrome.