Michael Bober is a Medical Genetics provider in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Chondrodystrophy. 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 Chondrodystrophy. 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 Chondrodystrophy. Their top areas of expertise are Pyle Disease, Brachydactyly Mononen Type, Arthrogryposis Multiplex Congenita, and Congenital Contractures.

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 Chondrodystrophy. 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.

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

"Ashley Blaske, MD, became fascinated with medicine when her brother was diagnosed with systemic juvenile idiopathic arthritis. She went on to become the first and only fellowship trained and board-certified pediatric and adult rheumatologist in Tennessee. ""In my former position, I cared for patients who had no option but to drive all the way to Nashville to see a pediatric rheumatologist,"" Dr. Blaske says. After visiting the Appalachian Highlands, she and her husband fell in love with the community and its natural beauty and decided to stay. ""I am proud to serve as the region's only pediatric rheumatologist."" As an ETSU Health clinician, Dr. Blaske also serves as a faculty member at ETSU's Quillen College of Medicine.". Dr. Blaske is rated as an Experienced provider by MediFind in the treatment of Chondrodystrophy. Her top areas of expertise are Fibromyalgia, Dermatomyositis, Rheumatoid Arthritis (RA), and Psoriasis.

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

Jeffrey Campbell is a General Surgeon and a Pediatrics provider in Broomall, Pennsylvania. Dr. Campbell is rated as a Distinguished provider by MediFind in the treatment of Chondrodystrophy. His top areas of expertise are Achondroplasia, Increased Head Circumference, Spondyloepiphyseal Dysplasia, Bone Graft, and Adenoidectomy. Dr. Campbell 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 Chondrodystrophy. Her top areas of expertise are Anorexia, Malnutrition, Painful Menstrual Periods, and Tetanus. Dr. Middleman is currently accepting new patients.

Stephen Robertson practices in Dunedin, New Zealand. Mr. Robertson is rated as a Distinguished expert by MediFind in the treatment of Chondrodystrophy. 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 Chondrodystrophy. 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).

Gautam Singh is a Pediatric Cardiologist in Detroit, Michigan. Dr. Singh is rated as an Advanced provider by MediFind in the treatment of Chondrodystrophy. 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 Chondrodystrophy. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Dr. Marion is Executive Director of the Children’s Evaluation and Rehabilitation Center and the University Center of Excellence in Developmental Disabilities at the Rose F. Kennedy Center. He is Chief of the Divisions of Genetics and of Development Medicine at the Children’s Hospital at Montefiore and Director of the Center for Congenital Disorders. A faculty member at Einstein since 1984, Dr. Marion’s interests include the natural history and genetic basis of multiple malformation syndromes. At The Children’s Hospital at Montefiore he has served as Medical Director of the Spina Bifida Center for 20 years, is the founder and Medical Director of the Williams Syndrome Center, and helped organize the Center for CardioG enetics, the Neurofibromatosis Center, and the Center for Excellence in Autism. He has published extensively in the medical literature in these areas and, in addition, is the author of seven books. Dr. Marion is rated as an Advanced provider by MediFind in the treatment of Chondrodystrophy. His top areas of expertise are Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type 3, and Mucopolysaccharidoses (MPS).

Patricia Levan is a primary care provider, practicing in Family Medicine in Chesterland, Ohio. Dr. Levan is rated as an Experienced provider by MediFind in the treatment of Chondrodystrophy. Her top areas of expertise are High Cholesterol, Infant Hyperglycemia, Obesity in Children, and Bronchitis. Dr. Levan is currently accepting new patients.

Jochen Son-Hing is an Orthopedics provider in Cleveland, Ohio. Dr. Son-Hing is rated as an Experienced provider by MediFind in the treatment of Chondrodystrophy. His top areas of expertise are Scoliosis, Sprengel Deformity, Congenital Radioulnar Synostosis, and Accessory Navicular Bone. Dr. Son-Hing is currently accepting new patients.

Michel Arcand is an Orthopedics provider in Providence, Rhode Island. Dr. Arcand is rated as an Experienced provider by MediFind in the treatment of Chondrodystrophy. His top areas of expertise are Synovial Osteochondromatosis, Osteoarthritis, Tendinitis, Hormone Replacement Therapy (HRT), and Hip Replacement.

John Frino is an Orthopedics provider in Winston Salem, North Carolina. Dr. Frino is rated as an Experienced provider by MediFind in the treatment of Chondrodystrophy. His top areas of expertise are Scoliosis, Knock Knees, Clubfoot, Spondylocarpotarsal Synostosis Syndrome, and Hip Replacement. Dr. Frino is currently accepting new patients.

Raymond Liu is an Orthopedics provider in Cleveland, Ohio. Dr. Liu is rated as an Experienced provider by MediFind in the treatment of Chondrodystrophy. His top areas of expertise are Slipped Capital Femoral Epiphysis, Legg-Calve-Perthes Disease (LCPD), Accessory Navicular Bone, Osteotomy, and Penectomy. Dr. Liu is currently accepting new patients.

Timothy Neely is a primary care provider, practicing in Family Medicine in Chardon, Ohio. Dr. Neely is rated as an Experienced provider by MediFind in the treatment of Chondrodystrophy. His top areas of expertise are Type 2 Diabetes (T2D), Hypertension, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Neely is currently accepting new patients.