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 an Elite provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.

Michael Bober is a Medical Genetics provider in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Rhizomelic 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.

Erminia Di Pietro practices in Montreal, Canada. Ms. Di Pietro is rated as an Elite expert by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Zellweger Syndrome, X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, and Achondrogenesis.

Michael Mannstadt is an Endocrinologist in Boston, Massachusetts. Dr. Mannstadt is rated as a Distinguished provider by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Hypoparathyroidism, Mccune-Albright Syndrome, Autosomal Dominant Hypocalcemia, Hormone Replacement Therapy (HRT), and Thyroidectomy.

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 Rhizomelic Syndrome. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Leila Khan is an Endocrinologist in Cleveland, Ohio. Dr. Khan has been practicing medicine for over 27 years and is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Milk-Alkali Syndrome, Hypercalcemia, Hyperthyroidism, Hyperparathyroidism, and Parathyroidectomy.

Henry Bone is an Endocrinologist in Detroit, Michigan. Dr. Bone has been practicing medicine for over 54 years and is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Paget's Disease of Bone, and Hyperparathyroidism. Dr. Bone is currently accepting new patients.

Pryia Dayamani is an Endocrinologist in Atlanta, Georgia. Dr. Dayamani is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Follicular Thyroid Cancer, Thyroid Cancer, Anaplastic Thyroid Cancer, and Medullary Thyroid Carcinoma.

Mona Al Mukaddam is an Endocrinologist in Philadelphia, Pennsylvania. Dr. Al Mukaddam is rated as an Advanced provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Juvenile Primary Osteoporosis, Hypothyroidism, and Fasciotomy.

Haroon Javaid practices in Riyadh, Saudi Arabia. Mr. Javaid is rated as a Distinguished expert by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Acatalasemia, Rhizomelic Syndrome, X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, and Tenotomy.

Lisa Kratz is a Medical Genetics provider in Baltimore, Maryland. Dr. Kratz is rated as a Distinguished provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Greenberg Dysplasia, Smith-Lemli-Opitz Syndrome, Rhizomelic Syndrome, and Chondrodysplasia Punctata Syndrome.

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

Jurgen Spranger practices in Mainz, Germany. Spranger is rated as a Distinguished expert by MediFind in the treatment of Rhizomelic Syndrome. Their top areas of expertise are Rhizomelic Syndrome, Chondrodystrophy, Schwartz-Jampel Syndrome, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

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

Joanna Sztulpa-Walczak practices in Poznan, Poland. Ms. Sztulpa-Walczak is rated as a Distinguished expert by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Cranioectodermal Dysplasia, Epicanthal Folds, Clouston Syndrome, Ectodermal Dysplasias, and Kidney Transplant.

Fabian Dorninger practices in Vienna, Austria. Mr. Dorninger is rated as a Distinguished expert by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Rhizomelic Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Refsum Disease.

Bjoern Vogt practices in Muenster, Germany. Vogt is rated as a Distinguished expert by MediFind in the treatment of Rhizomelic Syndrome. Their top areas of expertise are Knock Knees, Absence of Tibia, Rhizomelic Syndrome, Osteotomy, and Hip Replacement.

Rasha Elhossini practices in Cairo, Egypt. Ms. Elhossini is rated as a Distinguished expert by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Rhizomelic Syndrome, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Chondrodystrophy.

Ghada Otaify practices in Cairo, Egypt. Ms. Otaify is rated as a Distinguished expert by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Rhizomelic Syndrome, Osteogenesis Imperfecta, Congenital Bowing of Long Bones, and Schwartz-Jampel Syndrome.