The 20 Best X-Linked Spondyloepiphyseal Dysplasia Tarda Doctors Near Me

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 X-Linked Spondyloepiphyseal Dysplasia Tarda. 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.

Katta Girisha practices practicing medicine in Manipala, India. Girisha is rated as an Elite expert by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. They are also highly rated in 79 other conditions, according to our data. Their clinical expertise encompasses Pyle Disease, Brachydactyly Mononen Type, Arthrogryposis Multiplex Congenita, and Congenital Contractures.

William Mackenzie is an Orthopedics provider practicing medicine in Wilmington, Delaware. Dr. Mackenzie is rated as an Elite provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. 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.

Pelin Kiper-Simsek practices practicing medicine in Ankara, Turkey. Ms. Kiper-Simsek is rated as an Elite expert by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. She is also highly rated in 58 other conditions, according to our data. Her clinical expertise encompasses Chondrodystrophy, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and 3M Syndrome.

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 X-Linked Spondyloepiphyseal Dysplasia Tarda. 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.

Both of my parents were in the medical field and strongly influenced the direction of my career. I became a physical therapist, which I enjoyed immensely, but I thought I could make a different contribution to patient care by becoming a physician. In radiology, we are part of the medical team that helps diagnose or exclude an illness and we help to direct the course of our patient’s treatment. Working with children is an amazing experience. Kids are so resilient and bounce back from all types of difficult situations. They each have such a unique perspective and we try our best to tailor our interactive imaging procedures to the child. Sometimes this involves providing anatomy lessons to teen patients, other times it involves just “getting it over with.” We aim to make our imaging procedures as interesting and as comfortable as possible. My areas of interest include: Pediatric Body Imaging  Fetal Imaging Child Abuse I try to provide the most accurate information based on our imaging studies to the patient’s medical team so that the child can be treated as quickly as possible. I am fortunate to work with an incredible group of medical practitioners at Nemours/Alfred I. duPont Hospital for Children who share my passion to provide the highest quality medical care to all children. Dr. Harty is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses X-Linked Spondyloepiphyseal Dysplasia Tarda, Weissenbacher-Zweymuller Syndrome, Kniest Dysplasia, and Spondyloepiphyseal Dysplasia. Dr. Harty is board certified in American Board Of Radiology.

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 X-Linked Spondyloepiphyseal Dysplasia Tarda. 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.

Joseph Perra is an Orthopedics provider practicing medicine in Minneapolis, Minnesota. He has been practicing medicine for over 25 years. Dr. Perra is rated as an Experienced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphosis, Frontonasal Dysplasia Klippel Feil Syndrome, Spinal Fusion, and Microdiscectomy. Dr. Perra is currently accepting new patients.

Amy Middleman is an Adolescent Medicine specialist and a Pediatrics provider practicing medicine in Houston, Texas. Dr. Middleman is rated as an Experienced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Anorexia, Malnutrition, Painful Menstrual Periods, and Tetanus. Dr. Middleman is currently accepting new patients.

Stephen Robertson practices practicing medicine in Dunedin, New Zealand. Mr. Robertson is rated as a Distinguished expert by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Periventricular Heterotopia, Frontometaphyseal Dysplasia, Osteopathia Striata Cranial Sclerosis, and Micrognathia.

Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at Nemours Children’s Hospital, Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of the Nemours Ethics and Patients’ Rights Committee. It’s an honor and a privilege to care for families, children and teens with skeletal dysplasias and medically complex conditions.  I aim to treat each child or teen as a whole, and not just treat the individual condition, as I feel spiritual and emotional needs are just as important as medical and physical ones. I try to intently listen to each child or teen and family when they are under my care, in hopes of understanding their story and their experience and, therefore, focusing goals of care to their individual needs. My medical interests include:  Clinical management of infants with skeletal dysplasias, including OI, thanatophoric dysplasia, and collagen-II-opathies Emerging medical treatments for skeletal dysplasias The elucidation of the natural history of OI and skeletal dysplasias The role of biomarkers in all skeletal dysplasias Management of chronic pain in adolescents and young adults with skeletal dysplasias Complex medical conditions Palliative care I try to make a difference by focusing on each child or teen as if they are my one and only patient. I aim to provide a comforting environment for kids while they are in our care and always consider how to better manage symptoms and control any pain. I earned a master's degree in bioethics, and often call upon what I learned to help inform how I view the way the hospital and our teams deliver excellent care to children and teens. Dr. Carroll is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. She is also highly rated in 53 other conditions, according to our data. Her clinical expertise encompasses Thanatophoric Dysplasia, Spondyloepiphyseal Dysplasia, Diastrophic Dysplasia, Acromicric Dysplasia, and Osteotomy. Dr. Carroll is board certified in American Board Of Pediatrics.

Michael Moore is a Pediatric Radiologist and a Radiologist practicing medicine in Wilmington, Delaware. He has been practicing medicine for over 22 years. Dr. Moore is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. He is also highly rated in 86 other conditions, according to our data. His clinical expertise encompasses Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Scoliosis, and Hypochondroplasia. Dr. Moore is board certified in American Board Of Radiology.

Gautam Singh is a Pediatric Cardiologist practicing medicine in Detroit, Michigan. Dr. Singh is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Cantu Syndrome, Premature Infant, High Blood Pressure in Infants, and Congenital Heart Disease (CHD).

Dr. Robert A. Heinle is a pediatric pulmonologist and sleep physician. He's director of the hospital's Pediatric Pulmonary Fellowship, medical director of the Pulmonary Function Laboratory and co-director of the neuromuscular clinic. He's also assistant professor of both internal medicine and pediatrics at Sidney Kimmel Medical College. I grew up in a big family. There were always kids around, so I had a lot of practice interacting with, and looking out for, children who were younger than me. As a result, I learned early on that I'm good with kids and enjoy working with them. Growing up, I decided that becoming an aerospace engineer would be fun and exciting, so I actually became one and worked at NASA. But, after spending all day, every day staring at computer screens and not interacting with people, I began to rethink my decision. It occurred to me that the perfect combination of my affinity for science, math and physics, and love for working with children would be to become a pediatrician. So, I went back to school. I'm more than glad I did. I love being a pediatrician. I think I appreciate even more the opportunity of working with kids and helping them because of the extra work and commitment it took to go back to school to become a doctor. I love helping children get better if they are sick, and watching them develop from babies to toddlers, then to being big kids and teens. I love working with their families, too. I absolutely love to teach. I teach my own children, and I thoroughly enjoy educating the next generation of physicians as the program director for our hospital's pediatric pulmonary fellowship and as an assistant professor of internal medicine and pediatrics at the Sidney Kimmel Medical College at Thomas Jefferson University. I assist in the education of our hospital's general pediatrics residents and medical students. I also like to help educate my patients and their families about the medical conditions they're facing and about their treatments and home care. I feel that the best tool in health care is, very often, education. I really want to make sure that each patient and family is taken care of — completely. So I make sure that I spend the time each one needs in our appointments together. For this reason, I may run a little late, especially as the day goes on. I turn that into a promise that I make to all of my patients and families: I may not be on time for our appointment, but I will always give you all the time that you need. In addition to making sure each patient's medicine and treatment is squared away, it’s my goal to make sure each patient — and their family — leaves with a better understanding of asthma or whatever pulmonary condition they’re dealing with. Dr. Heinle is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Subglottic Stenosis, Duchenne Muscular Dystrophy, Hypochondroplasia, Osteotomy, and Adenoidectomy. Dr. Heinle is board certified in American Board Of Pediatrics.

Archana Malik is a Pediatric Radiologist and a Radiologist practicing medicine in Wilmington, Delaware. Dr. Malik is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. She is also highly rated in 45 other conditions, according to our data. Her clinical expertise encompasses Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Scoliosis, and Caffey Disease. Dr. Malik is board certified in American Board Of Radiology.

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 Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. 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.

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 X-Linked Spondyloepiphyseal Dysplasia Tarda. 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.

Marty Mcgraw is a Pediatric Radiologist and a Radiologist practicing medicine in Orlando, Florida. He has been practicing medicine for over 8 years. Dr. Mcgraw is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Short Stature (Growth Disorders), Familial Short Stature (FSS), Idiopathic Short Stature (ISS), Scoliosis, and Small Bowel Resection. Dr. Mcgraw is board certified in American Board Of Radiology.

Maura Mcmanus is a Physiatrist practicing medicine in Wilmington, Delaware. She has been practicing medicine for over 8 years. Dr. Mcmanus is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. She is also highly rated in 34 other conditions, according to our data. Her clinical expertise encompasses Cerebral Palsy, Spastic Diplegia Infantile Type, Spasticity, and Moebius Syndrome. Dr. Mcmanus is board certified in American Board Of Physical Medicine & Rehabilitation.

Christopher Makarewich is an Orthopedics provider practicing medicine in Riverton, Utah. Dr. Makarewich is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Knock Knees, Osteogenesis Imperfecta, Achondroplasia, Osteotomy, and Tenotomy. Dr. Makarewich is board certified in American Board Of Orthopaedic Surgery. Dr. Makarewich is currently accepting new patients.