The 20 Best Schwartz-Jampel Syndrome Doctors in The United States
Find the Top Schwartz-Jampel Syndrome Experts and Specialists
Nemours Children's Hospital, Delaware
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 Schwartz-Jampel Syndrome. 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.
Rubenstein Child Health Building
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. 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.
St. Christopher's Hospital For Children
Joshua Pahys is an Orthopedics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Pahys is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphosis, Adolescent Idiopathic Scoliosis, Spinal Fusion, and Osteotomy. Dr. Pahys is board certified in American Board Of Orthopaedic Surgery.
Mari Mori is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Atlanta, Georgia. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Von Gierke Disease, and Ornithine Transcarbamylase Deficiency. Dr. Mori is currently accepting new patients.
State University Of Iowa
Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.
Alvin Crawford is an Orthopedics provider practicing medicine in Cincinnati, Ohio. Dr. Crawford is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Neurofibromatosis, Kyphosis, Osteotomy, and Spinal Fusion.
Washington University
Dorothy Grange is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Saint Louis, Missouri. Dr. Grange is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias. Dr. Grange is currently accepting new patients.
The Regents Of The University Of California
Deborah Krakow is a Medical Genetics specialist and an Obstetrics and Gynecologist practicing medicine in Los Angeles, California. Dr. Krakow is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Osteogenesis Imperfecta, Chondrodystrophy, Acromicric Dysplasia, and Spondyloepimetaphyseal Dysplasia Strudwick Type.
HSS Long Island
Cathleen Raggio is a Pediatric Orthopedics provider practicing medicine in Uniondale, New York. Dr. Raggio is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Osteogenesis Imperfecta, Brachydactyly Mononen Type, Achondroplasia, and Chondrodystrophy. Dr. Raggio is currently accepting new patients.
Nemours Children's Hospital Delaware
William Mackenzie is an Orthopedics provider practicing medicine in Wilmington, Delaware. Dr. Mackenzie is rated as a Distinguished provider by MediFind in the treatment of Schwartz-Jampel Syndrome. 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.
Seattle Children's Hospital
Shawn Kamps is a Pediatric Radiologist practicing medicine in Seattle, Washington. Dr. Kamps is rated as an Advanced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Chondrodystrophy, and Brachydactyly Mononen Type.
Emory Clinic At 1365 Clifton Road
William Wilcox is a Medical Genetics provider practicing medicine in Atlanta, Georgia. He has been practicing medicine for over 38 years. Dr. Wilcox is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). Dr. Wilcox is board certified in American Board Of Medical Genetics And Genomics, 1996.
Greenwood Genetic Center– Greenwood
Roger Stevenson is a Medical Genetics provider practicing medicine in Greenwood, South Carolina. Dr. Stevenson is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses VACTERL Association, Micrognathia, Phocomelia, and FG Syndrome. Dr. Stevenson is currently accepting new patients.
Montefiore At AECOM
Harry Ostrer, MD, is Professor, Pathology, Genetics and Pediatrics at Montefiore Einstein. He is a medical geneticist who investigates the genetic basis of common and rare disorders. Dr. Ostrer is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Swyer Syndrome, Turner Syndrome, Intersex, Proctitis, and Gastric Bypass.
Nemours Children's Hospital, Delaware
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 Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. 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.
Johns Hopkins Health Care & Surgery Center - Green Spring Station, Lutherville
Erin Honcharuk, M.D., is a pediatric orthopaedic surgeon with training and expertise in a variety of bone and joint injuries, deformities and diseases affecting children, adolescents, and young adults. She specializes in treating children with conditions affecting the lower extremities, including hip dysplasia, joint instability, clubfoot, bone dysplasias and fractures. She is also skilled in limb-lengthening and reconstructive procedures to correct uneven limbs and treat congenital limb differences. Dr. Honcharuk graduated from the Rutgers-Robert Wood Johnson Medical School in New Jersey, where she received a full scholarship. She completed her residency there in orthopaedic surgery, and was awarded the Resident of the Year Award. She then trained as a pediatric orthopaedic fellow at the Texas Scottish Rite Hospital for Children in Dallas, Texas. She did an additional fellowship at the Paley Orthopaedic and Spine Institute in West Palm Beach, Florida, focusing on limb reconstruction and lengthening. Dr. Honcharuk’s research interests include evaluation and treatment of limb length inequality, traumatic injuries, foot deformities and other pediatric conditions. She is a member of the Pediatric Orthopaedic Society of North America, the American Orthopaedic Association, and the Limb Lengthening and Reconstruction Society. When not at work, Dr. Honcharuk enjoys spending time with her husband and their rescue beagle mix, Furiosa. She also enjoys yoga and baking and decorating cakes. Videos Erin Honcharuk, M.D.Pediatric Orthopaedic Surgeon Leg Length Inequality with Dr. Erin Honcharuk Clubfoot in Children with Dr. Erin Honcharuk. Dr. Honcharuk is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Blount Disease, Brachydactyly Type C, Brachydactyly Type B, Brachydactyly Type A2, and Osteotomy. Dr. Honcharuk is board certified in American Board Of Orthopaedic Surgery.
Montefiore Medical Center
Justin Holder is a Radiologist practicing medicine in Bronx, New York. Dr. Holder is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His clinical expertise encompasses Infantile Pyloric Stenosis, Colonic Malakoplakia, Progressive Familial Intrahepatic Cholestasis Type 1, and Progressive Familial Intrahepatic Cholestasis Type 2.
Baylor Scott & White Medical Center - Buda
Jose Santiago is a Pediatric Radiologist and a Radiologist practicing medicine in Buda, Texas. Dr. Santiago is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. His clinical expertise encompasses Chronic Cough, Vertigo, Pleural Effusion, and Pleurisy. Dr. Santiago is board certified in Pediatric Radiology- American Board Of Radiology and Diagnostic Radiology- American Board Of Radiology.
Corewell Health Taylor Hospital Orthopedic Center
Betina Hinckel is a Sports Medicine specialist and an Orthopedics provider practicing medicine in Taylor, Michigan. She has been practicing medicine for over 20 years. Dr. Hinckel is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Hypermobile Joints, Osteoarthritis, Trochlear Dysplasia, Tenotomy, and Osteotomy. Dr. Hinckel is currently accepting new patients.
Lenox Baker Children's Hospital
I find joy and satisfaction in my dedication to the care of children with rare diseases specifically: genetic disorders and inherited disorders of metabolism. Due to many years of training and practice, I have experience involving care of patients with a variety of genetic and metabolic conditions, including but not limited to glycogen storage diseases, fatty acid oxidation defects, mitochondrial disorders, lysosomal storage diseases, urea cycle disorders, organic acidurias, aminoacidopathies, and infantile hepatopathy due to LARS mutations, etc. I enjoy working together with children and their parents, whom I consider an important part of the team. I pursued this field because it gives me great satisfaction and pleasure to see the children with these conditions grow, and the patients and families feel cared for, and not isolated. I love learning about the children's interests, and see that they grow happy and healthy. I think out of the box when there is a challenge that needs to be met for the patient's care and management. Dr. Hassan is rated as an Experienced provider by MediFind in the treatment of Schwartz-Jampel Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Mitochondrial Trifunctional Protein Deficiency, Protein Deficiency, Von Gierke Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Dr. Hassan is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics and American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics.
Last Updated: 04/28/2026










