The 20 Best Chondrodysplasia Punctata with Steroid Sulfatase Deficiency Doctors in The United States

Rebecca Ahrens is a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ahrens is rated as a Distinguished provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and RASopathies.

Laura Adang is a Pediatric Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Adang is rated as a Distinguished provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Aicardi-Goutieres Syndrome, Metachromatic Leukodystrophy, Leukodystrophy, CACH Syndrome, and Gastrostomy.

Mauricio De Castro Pretelt is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Oklahoma City, Oklahoma. Dr. De Castro Pretelt is rated as a Distinguished provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Multiple Sulfatase Deficiency, Biotinidase Deficiency, and Pyruvate Carboxylase Deficiency.

Nnenna Agim is a Pediatrics specialist and a Dermatologist practicing medicine in Dallas, Texas. Dr. Agim is rated as a Distinguished provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Pityriasis Lichenoides Chronica, Epidermal Nevus, and Pityriasis Lichenoides.

Haneol Jeong is a Dermatologist practicing medicine in Plano, Texas. He has been practicing medicine for over 10 years. Dr. Jeong is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. He is also highly rated in 52 other conditions, according to our data. His clinical expertise encompasses Basal Cell Skin Cancer, Squamous Cell Skin Carcinoma, Giant Congenital Melanocytic Nevus, and Familial Atypical Multiple Mole Melanoma Syndrome. Dr. Jeong is board certified in Dermatology- American Board Of Dermatology, Dermapathology- American Board Of Dermatology/Dermatopathology, and Dermapathology- American Board Of Dermatology.

Pornchai Tirakitsoontorn is a Pediatric Pulmonologist practicing medicine in Orange, California. Dr. Tirakitsoontorn is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Hypochondrogenesis, Cystic Fibrosis, Congenital Unilateral Pulmonary Hypoplasia, and Asthma. Dr. Tirakitsoontorn is currently accepting new patients.

Antonella Tosti is a Dermatologist practicing medicine in Miami, Florida. Dr. Tosti is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Hypotrichosis, Alopecia Areata, Splinter Hemorrhages, and Ringworm.

Dr. Nancy Yeh is a pediatric physiatrist and the medical director of the Inpatient Rehabilitation Unit at Kennedy Krieger Institute. Dr. Yeh is also an assistant professor of Physical Medicine and Rehabilitation at The Johns Hopkins University School of Medicine. Dr. Yeh received a bachelor’s of science degree from Rice University in Houston, Texas and medical degree from St. George’s University School of Medicine. She completed a residency in physical medicine and rehabilitation at Northwell Health in New York. Following residency, she completed a fellowship in pediatric rehabilitation medicine at Kennedy Krieger Institute and Johns Hopkins University School of Medicine in 2017 and later that year joined the faculty. Selected Publications Yeh, N., Slomine, B.S., Paasch, V. et al. Rehabilitation in Children with Disorder of Consciousness. Curr Phys Med Rehabil Rep 7, 94–103 (2019). Dr. Yeh is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Cerebral Palsy, Spastic Diplegia Infantile Type, Encephalitis, and Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. Dr. Yeh is board certified in American Board Of Physical Medicine And Rehabilitation.

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 an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. 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.

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 Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. 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.

Michael Horan is a Pediatric Orthopedics provider practicing medicine in Lexington, South Carolina. Dr. Horan is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Sandhaus Ben-Ami Syndrome, Small Patella Syndrome, Trochlear Dysplasia, and Recessive Chondrodysplasia Punctata 1. Dr. Horan is board certified in American Board Of Orthopaedic Surgery. Dr. Horan is currently accepting new patients.

Gregory Matthews is a Radiologist practicing medicine in Greenville, South Carolina. Dr. Matthews is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, and Knock Knees. Dr. Matthews is board certified in American Board Of Radiology.

William Jones is a Pediatrics provider practicing medicine in Greenville, South Carolina. Dr. Jones is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. His clinical expertise encompasses Recessive Chondrodysplasia Punctata 1, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, PIK3CA-Related Overgrowth Spectrum, and Atypical Hemolytic Uremic Syndrome (aHUS). Dr. Jones is board certified in American Board Of Pediatrics. Dr. Jones is currently accepting new patients.

Christopher Bray is a Pediatric Orthopedics provider practicing medicine in Greenville, South Carolina. Dr. Bray is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. His clinical expertise encompasses Clubfoot, Small Patella Syndrome, Sandhaus Ben-Ami Syndrome, Hip Replacement, and Bone Graft. Dr. Bray is board certified in American Board Of Orthopaedic Surgery. Dr. Bray is currently accepting new patients.

In my clinical practice, I see adult patients with diagnosed or suspected genetic disease. This includes both chromosomal abnormalities, as well as single gene disorders. I see patients with a variety of disorders, including Tuberous Sclerosis, Neurofibromatosis, connective tissue disease including Ehlers-Danlos syndrome and Marfan syndrome, and familial cancer syndromes. I have a particular clinical interest in patients with cardiopulmonary disease. As a physician-scientist, I have a research focus on postural orthostatic hypotension (POTS) and pulmonary artery hypertension (PAH). Dr. Posey is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Hypotonia, Achalasia Microcephaly Syndrome, Microcephaly, and Cortical Dysplasia. Dr. Posey is currently accepting new patients.

William Mackenzie is an Orthopedics provider practicing medicine in Wilmington, Delaware. He has been practicing medicine for over 3 years. Dr. Mackenzie is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. He is also highly rated in 67 other conditions, according to our data. His clinical expertise encompasses Multicentric Carpotarsal Osteolysis Syndrome, Kyphomelic Dysplasia, Osteopoikilosis, and Spondyloepiphyseal Dysplasia. Dr. Mackenzie is board certified in American Board Of Orthopaedic Surgery.

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 Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. 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.

I began my medical career as a practicing pediatrician in Pittsburgh. During those five years, I realized that I wanted to be the doctor who is instrumental in figuring out what is wrong. So I retrained with a fellowship in pediatric radiology. I treat children because I love kids and I feel a wonderful sense of accomplishment if I can make the life of a sick or injured child easier. In radiology, I am passionate about making a diagnosis as quickly and accurately as possible so a child can receive the proper treatment. Outside of work, I am passionate about my family, dancing, Broadway shows and sunny days. When I was a practicing pediatrician, I realized that the most important part of anyone’s care is a proper diagnosis, which is not always easy to ascertain. I try to make a difference by making the most accurate diagnoses possible. Dr. Bron is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. She is also highly rated in 45 other conditions, according to our data. Her clinical expertise encompasses Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Weissenbacher-Zweymuller Syndrome. Dr. Bron is board certified in American Board Of Radiology.

Dr. Matthew Stepanovich is an assistant professor of orthopaedic surgery at University of Michigan Health in the division of pediatric orthopaedics. He received his undergraduate degree in Biomedical Science at Grand Valley State University, followed by medical school at Michigan State University where he earned Alpha Omega Alpha honors. Dr. Stepanovich completed his internship and residency at the Naval Medical Center, and fellowship training in Pediatric Orthopaedics at Rady Children’s Hospital.In 2015, Dr. Stepanovich returned to the Naval Medical Center and became head of the Pediatric Orthopaedic Division and Medical Director of the Orthopaedic Physician Assistant Fellowship. Dr. Stepanovich joined the faculty at the University of Michigan in 2019, upon honorable discharge from the Navy. Clinically, he treats multiple orthopaedic conditions including spinal deformity, lower extremity disorders, hip disorders, and pediatric trauma. Dr. Stepanovich is Board Certified by the American Board of Orthopaedic Surgery. 87906952. Dr. Stepanovich is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Beukes Familial Hip Dysplasia, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, and Osteotomy. Dr. Stepanovich is board certified in Orthopedic Surgery.

Dr. G. Ying Li is a Clinical Professor and Chief of Pediatric Orthopaedic Surgery in the Department of Orthopaedic Surgery at University of Michigan Health. She completed her undergraduate training at Dartmouth College. She received her medical degree from Wake Forest University School of Medicine and graduated with AOA recognition. Dr. Li did her residency training in orthopaedic surgery at Wake Forest University Baptist Medical Center. She went on to complete a pediatric orthopaedic surgery fellowship at Children’s Hospital Boston. She joined the faculty at the University of Michigan in 2011 at the completion of her fellowship. Dr. Li is Board Certified by the American Board of Orthopaedic Surgery.Her clinical interests include:Spinal deformity (including scoliosis, kyphosis, and spondylolisthesis) Hip disorders (including hip dysplasia, SCFE, and Perthes)Lower extremity disordersPediatric orthopaedic traumaDr. Li’s research focus is on pediatric spinal deformity and she has numerous publications on this topic. She is a Principal Researcher and a member of the Research Council of the Pediatric Spine Study Group. Dr. Li is an active member of the Pediatric Orthopaedic Society of North America and the Scoliosis Research Society, and has held leadership positions in both societies. Dr. Li completed the American Orthopaedic Association/University of Southern California APEX Leadership Program from 2020-2021 and the Scoliosis Research Society L.E.A.D. Program in 2024. Dr. Li is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. She is also highly rated in 38 other conditions, according to our data. Her clinical expertise encompasses Scoliosis, Beukes Familial Hip Dysplasia, Spondylocarpotarsal Synostosis Syndrome, and Caudal Regression Syndrome. Dr. Li is board certified in Orthopedic Surgery.