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

Nnenna Agim is a Pediatrics provider 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 13 other conditions, according to our data. Her clinical expertise encompasses Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Pityriasis Lichenoides Chronica, Epidermal Nevus, and Pityriasis Lichenoides.

Antonella Tosti is a Dermatologist practicing medicine in Miami Beach, 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 31 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Hypotrichosis, Alopecia Areata, Splinter Hemorrhages, and Ringworm. Dr. Tosti is currently accepting new patients.

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 11 other conditions, according to our data. Her clinical expertise encompasses Aicardi-Goutieres Syndrome, Leukodystrophy, Metachromatic Leukodystrophy, CACH Syndrome, and Gastrostomy.

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.

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.

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 Giant Congenital Nevus. 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.

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.

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, Kniest Dysplasia, Spondyloepiphyseal Dysplasia Congenita, and Weissenbacher-Zweymuller Syndrome. Dr. Harty 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.

My profession gives me the opportunity to help a lot of people everyday – children and adults – in significant ways. As a pediatric endocrinologist with two great children of my own, I do my best to treat each child I care for as my own and do whatever it takes to address their medical problems. I love treating children because I use my knowledge about pediatric endocrinology to help them get better quickly. It’s a good feeling to know many of them will grow up to be healthy adults with less risk of developing some of the illnesses commonly seen later in life. Sometimes I see children who are experiencing medical problems without knowing what’s really wrong. Making the correct diagnosis is important, even if it’s distressful at first for the child and family. Because that’s the first step toward starting the right treatment, and helping that child reach his or her full potential. Dr. Yu is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Familial Short Stature (FSS), Idiopathic Short Stature (ISS), Short Stature (Growth Disorders), and Precocious Puberty. Dr. Yu is board certified in American Board Of Pediatrics.

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 Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Recessive Chondrodysplasia Punctata 1, 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, Sandhaus Ben-Ami Syndrome, Small Patella 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 Multiple Synostoses Syndrome 1, Fibrochondrogenesis, Myhre Syndrome, and Dyggve-Melchior-Clausen Syndrome. 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, Spondyloepiphyseal Dysplasia, and Weissenbacher-Zweymuller Syndrome. Dr. Bron is board certified in American Board Of Radiology.

Mahim Jain is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Jain is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. He is also highly rated in 138 other conditions, according to our data. His clinical expertise encompasses Osteogenesis Imperfecta, Miller-Dieker Syndrome, Lissencephaly 1, and Spondyloepimetaphyseal Dysplasia Strudwick Type. Dr. Jain is board certified in American Board Of Medical Genetics And Genomics.

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, Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, and Osteotomy. Dr. Stepanovich is board certified in Orthopedic Surgery.