The 20 Best Thanatophoric Dysplasia Doctors in The United States

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 an Elite provider by MediFind in the treatment of Thanatophoric Dysplasia. 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.

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 a Distinguished provider by MediFind in the treatment of Thanatophoric Dysplasia. 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.

Even in the face of adversity and medical challenges, children show remarkable resilience. My patients inspire me on a daily basis to be the best physician I can be. I chose to specialize in pediatric pulmonary medicine and sleep medicine because these conditions affect a large amount of the general population, and I wanted to help children with a wide variety of disorders to live happy and healthy lives. I am passionate about helping each family learn to understand their child’s condition. By working with my patients to help them understand their underlying condition, triggers and treatments, my goal is to enable families to manage their children’s condition at home and stay out of the hospital as much as possible. I enjoy getting to know my patients and what activities they like to do when they are well. My proudest moments are seeing my patients doing what they love when healthy.   Some of the conditions I’m especially interested in with my practice include: aerodigestive tract disorders asthma pulmonary conditions related to cerebral palsy ventilator dependency. Dr. Strang is rated as an Advanced provider by MediFind in the treatment of Thanatophoric Dysplasia. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Obstructive Sleep Apnea, Hypochondroplasia, Ellis-Van Creveld Syndrome, Thanatophoric Dysplasia, and Posterior Fossa Decompression. Dr. Strang is board certified in American Board Of Pediatrics.

Dr. Jeffery Campbell has been a pediatric neurosurgeon at Nemours for 20 years. His most notable work is with kids that have skeletal dysplasia and he acts as the neurosurgical component of our larger skeletal dysplasia program at Nemours. Most of his research has been in dwarfism and osteogenesis imperfecta (OI). Prior to Nemours, he worked in a private practice in Charleston, SC. When I was in medical school, I knew that I wanted to do something “brain-related.” During my fourth year, I did a neurology rotation and thoroughly enjoyed the immediate feedback of surgery. I split my residency time between pediatric and adult hospitals, but quickly realized that I loved working with kids. I was able to see kids get better and found the impact I had on them gratifying. My goal as a doctor is to have a long-term impact on someone’s life and treating kids was my path to do just that. I am passionate about providing the best possible care for all children. I enjoy being on the cutting edge of treating rare problems on the skeletal dysplasia spectrum and I take pride in people traveling to Nemours from all over the country to seek such treatment. I love that I can do things that can’t be done anywhere else. I believe that health care should be a team sport. I always advocate for team approaches, especially with complicated cases. I actively create multidisciplinary teams for many of my patients to give them the very best care. Dr. Campbell is rated as an Advanced provider by MediFind in the treatment of Thanatophoric Dysplasia. He is also highly rated in 80 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Increased Head Circumference, Syringomyelia, Bone Graft, and Adenoidectomy. Dr. Campbell is board certified in American Board Of Neurological Surgery.

John O'hanlon is a Podiatric Medicine provider practicing medicine in Somers, New York. Dr. O'hanlon is rated as an Advanced provider by MediFind in the treatment of Thanatophoric Dysplasia. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Morton Neuroma, Tendinitis, Ledderhose Disease, and Fibromatosis.

Robert Olney is a Pediatric Endocrinologist practicing medicine in Jacksonville, Florida. Dr. Olney is rated as an Advanced provider by MediFind in the treatment of Thanatophoric Dysplasia. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Thanatophoric Dysplasia, Hypochondroplasia, Acanthosis Nigricans, and Short Stature (Growth Disorders).

Patrick Bering is a Cardiologist practicing medicine in Washington,, Washington, D.c.. Dr. Bering is rated as an Advanced provider by MediFind in the treatment of Thanatophoric Dysplasia. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Cardiomyopathy, Necrosis, Hypertrophic Cardiomyopathy (HCM), Pacemaker Implantation, and Cardiac Ablation.

Dr. Aaron C. Chidekel is division chief of pulmonology, co-medical director of the sleep program and director of the hospital's cystic fibrosis program. He's an associate professor of pediatrics at the Sidney Kimmel Medical College at Thomas Jefferson University, author of medical journal articles and books, invited lecturer and active researcher. How can you not love kids and want to do all you can to help them? After all, they are our future. If you can positively impact the life of a child, you also impact a little bit of our future. I became a doctor because I wanted to help people. One of my mentors in medical school was an early pioneer in the treatment of cystic fibrosis (CF), and I picked up on his passion for helping those with the disease. Since his early work to today, kids with CF are living longer and better. That's very exciting and led to my wanting to help kids with CF, too — as well as those with asthma and other pulmonary conditions. I'm passionate about working with the whole family. It's the best way for each child to have the best possible outcome, and helps the whole family feel ownership of and contribution to the child's health. I like to help the kids and their families deal with the challenges they are facing. This can be challenging for me as well, but it's ultimately very rewarding when I can make a positive difference for a child and family.I'm also passionate about teaching kids and their families about asthma, CF and other conditions and how they can take care of themselves and live as healthy a life as possible.Learning is very important to my own practice as a doctor as well. I find it crucial to stay up to date on the very latest regarding conditions and treatments. I believe that caring and contributing my skills as a physician can help make a difference for a child and family. Also, a positive attitude can help people get through tough challenges and sometimes serious health concerns. I believe my patients pick up on this and gain confidence from it — although they're often incredibly positive already, no matter what life has thrown at them. Dr. Chidekel is rated as an Experienced provider by MediFind in the treatment of Thanatophoric Dysplasia. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Ellis-Van Creveld Syndrome, Cystic Fibrosis, Obstructive Sleep Apnea, and Hypochondroplasia. Dr. Chidekel is board certified in American Board Of Pediatrics.

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 Experienced provider by MediFind in the treatment of Thanatophoric Dysplasia. 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.

Jeannette Prentice is a Neonatologist practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 26 years. Dr. Prentice is rated as an Experienced provider by MediFind in the treatment of Thanatophoric Dysplasia. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Gastroschisis, Atresia of Small Intestine, Omphalocele, and Kozlowski Warren Fisher Syndrome. Dr. Prentice is board certified in American Board Of Pediatrics and American Board Of Pediatrics.

Dr. Jan is the Division Director of General Pediatrics where she oversees clinical, teaching, and research operations for the Division of General Pediatrics for Cohen Children's Medical Center. She is also the Medical Director of the Health Homes Serving Children Program for Northwell Health, a care management program for pediatric Medicaid beneficiaries with complex medical or behavioral health needs. Dr. Jan has over a decade of clinical, programmatic and research experience in general pediatrics and general internal medicine. She specializes in the care of children and adults with complex medical needs and intellectual/developmental disabilities. She is the principal investigator of several federally and foundation funded research projects focusing on the delivery of healthcare and long-term care services for children and adults with chronic conditions originating in childhood. Dr. Jan earned her bachelor's degree from the City University of New York at Brooklyn College and her medical degree from the State University of New York Downstate Medical Center. She completed a dual residency in both pediatrics and internal medicine from the University of Pittsburgh Medical Center where she was also Chief Resident. She continued her fellowship training as a Robert Wood Johnson Foundation Clinical Scholar at the Perelman School of Medicine at UPenn, earning a master's in health policy research. Dr. Jan is rated as an Experienced provider by MediFind in the treatment of Thanatophoric Dysplasia. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses COVID-19, Sickle Cell Disease, Hemoglobinopathy, and Congenital Hemolytic Anemia. Dr. Jan is board certified in American Board Of Pediatrics and American Board Of Internal Medicine.

Dr. Hidalgo specializes in palliative care at Johns Hopkins All Children’s. She joined the hospital staff in 2025. She was previously a pediatric palliative care attending physician at Orlando Health, Arnold & Winnie Palmer Hospitals. Dr. Hidalgo earned her medical degree from the University of Central Florida College of Medicine. She completed a residency in pediatrics, followed by a fellowship in hospice and palliative medicine at Johns Hopkins All Children’s. She also has a certificate in Pediatric Bioethics from the Children's Mercy Center for Bioethics. She speaks English and Spanish. Dr. Hidalgo is rated as an Experienced provider by MediFind in the treatment of Thanatophoric Dysplasia. Her clinical expertise encompasses Kozlowski Warren Fisher Syndrome and Thanatophoric Dysplasia. Dr. Hidalgo is board certified in American Board Of Pediatrics.

Dr. Vandna Passi is a pediatric pulmonologist at Nemours/Alfred I. duPont Hospital for Children. She's an author of peer-reviewed medical journal articles, an invited presenter and an active researcher. I always wanted to work with children, and knew I wanted to be a pediatrician since I finished college. Then, in medical school, I spent a lot of my fourth year in pediatric subspecialties. Now, I get a lot of satisfaction seeing my patients over the long term — I can see their progress and development, and watch them as they grow. Children are such fun to work with and it can be simpler to approach their health issues than with adults. It's very fulfilling.One reason I chose pediatric pulmonology was because I liked the mix of being able to see and help children on an outpatient basis (helping kids on well and sick visits in our clinic) and also provide inpatient care to children who are acutely sick and admitted to the hospital. In my residency, I saw a lot of inner-city children. Many became seriously ill simply because their asthma wasn't being cared for, they hadn't been diagnosed properly, or they (and their families) hadn't been properly educated on how to manage their care. This was way more common than it should have been. I knew I wanted to help these kids, as well as all those who had other pulmonology issues, too. I'm passionate about working with patients and families to educate them on the conditions they’re dealing with, and how to prevent serious episodes and achieve the best possible quality of life. I'm also passionate about our hospital and staff continually setting best practices for treating children with pulmonology conditions and following those procedures routinely. I'm especially interested in these procedures being followed in our intensive care unit (ICU), as well as in our neonatal intensive care unit (NICU) and outpatient clinic. A big part of what I do is educate families on what they need to know regarding their child's condition and health, including proper medication and care. I can't be with their child at all times, so it's really about empowering each family to help their child's quality of life. In children with asthma, for instance, I feel they should never be limited. Together with their family, I want to help them do whatever they want to do in life. Dr. Passi is rated as an Advanced provider by MediFind in the treatment of Thanatophoric Dysplasia. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Subglottic Stenosis, Ellis-Van Creveld Syndrome, Thanatophoric Dysplasia, and Kozlowski Warren Fisher Syndrome. Dr. Passi is board certified in American Board Of Pediatrics.

Sarah Little is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Little is rated as an Advanced provider by MediFind in the treatment of Thanatophoric Dysplasia. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Hypochondroplasia, Kozlowski Warren Fisher Syndrome, Thanatophoric Dysplasia, and Leri-Weill Dyschondrosteosis. Dr. Little is board certified in National Commission On Certification Of Physician Assistants.

Shannon Jenkins is a Pediatrics provider practicing medicine in Ogden, Utah. Dr. Jenkins is rated as an Experienced provider by MediFind in the treatment of Thanatophoric Dysplasia. His clinical expertise encompasses Kozlowski Warren Fisher Syndrome, Thanatophoric Dysplasia, Microcephaly, and Congenital Unilateral Pulmonary Hypoplasia. Dr. Jenkins is board certified in Pediatrics-American Board Of Pediatrics (ABP) and Neonatal Perinatal Medicine-American Board Of Pediatrics (ABP). Dr. Jenkins is currently accepting new patients.

Michael Muench is a Neonatologist and an Obstetrics and Gynecologist practicing medicine in Overland Park, Kansas. Dr. Muench is rated as an Experienced provider by MediFind in the treatment of Thanatophoric Dysplasia. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Fetal Enterovirus Syndrome, Polyhydramnios, Gestational Diabetes, and Premature Infant.

Thomas Herman is a Radiologist practicing medicine in Saint Louis, Missouri. Dr. Herman is rated as an Experienced provider by MediFind in the treatment of Thanatophoric Dysplasia. His clinical expertise encompasses Thanatophoric Dysplasia, Atresia of Small Intestine, Hernia, and Dandy-Walker Syndrome.

Lauren Massingham is a Pediatrics provider practicing medicine in Providence, Rhode Island. Dr. Massingham is rated as an Experienced provider by MediFind in the treatment of Thanatophoric Dysplasia. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Hypotonia, Noonan Syndrome, Thanatophoric Dysplasia, and Wolman Disease. Dr. Massingham is board certified in Pediatrics and Clinical Genetics And Genomics.

Jean Makhlouf is a Pediatrics provider practicing medicine in Roseland, New Jersey. Dr. Makhlouf is rated as an Advanced provider by MediFind in the treatment of Thanatophoric Dysplasia. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Thanatophoric Dysplasia, Kozlowski Warren Fisher Syndrome, Childhood Disintegrative Disorder, and Obesity in Children. Dr. Makhlouf is currently accepting new patients.

William Mackenzie is an Orthopedics provider practicing medicine in Wilmington, Delaware. Dr. Mackenzie is rated as an Advanced provider by MediFind in the treatment of Thanatophoric Dysplasia. 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.