The 20 Best Recessive Chondrodysplasia Punctata 1 Doctors Near Me in Delaware, US

Find the Top Recessive Chondrodysplasia Punctata 1 Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 8 doctor with experience in Recessive Chondrodysplasia Punctata 1 near Delaware, US. Of these, 5 are Advanced and 3 are Experienced.

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8 providers found
    Experienced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Pediatrics
    Experienced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Pediatrics

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Languages Spoken:
    English

    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 Recessive Chondrodysplasia Punctata 1. 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.

    Experienced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Radiology
    Experienced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Radiology

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Experience:
    22+ years
    Languages Spoken:
    English

    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 Recessive Chondrodysplasia Punctata 1. 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.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Advanced in Recessive Chondrodysplasia Punctata 1

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Experience:
    3+ years
    Languages Spoken:
    English

    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 Recessive Chondrodysplasia Punctata 1. 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.

    Learn about our expert tiers
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Experience:
    17+ years
    Languages Spoken:
    English

    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 Recessive Chondrodysplasia Punctata 1. 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.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Radiology
    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Radiology

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Experience:
    10+ years
    Languages Spoken:
    English
    Offers Telehealth

    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 Recessive Chondrodysplasia Punctata 1. 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.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Languages Spoken:
    English

    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 Recessive Chondrodysplasia Punctata 1. 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.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Experience:
    32+ years
    Languages Spoken:
    English

    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 Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. 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.

    Experienced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Radiology
    Experienced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Radiology

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Experience:
    17+ years
    Languages Spoken:
    English, Mandarin

    I grew up in China’s Hunan province as an active, athletic child. My mom was a physician and my dad was a medical school professor, so I had great role models. Today I’m a radiologist focusing on pediatric musculoskeletal and body imaging, with concentration on X-rays, MRIs, CT scans, ultrasound, and fluoroscopy (how things move inside the body). I am certified in diagnostic radiology and subspecialized in pediatric radiology by the American Board of Radiology. I have been working over 17 years, and remain an active member of the Radiological Society of North America and Society of Pediatric Radiology. I really like kids, and I’m glad to help whenever I can. I work closely with clinical teams to help make sure each child’s diagnosis is correct. I enjoy sharing my expertise with other physicians and learning from them. It’s great to get an understanding of how they approach a diagnosis. I think everyone should have access to quality healthcare. Nemours does because we treat all children regardless of their ability to pay. That’s important to me. I have a passion to be part of excellent medical care for children and do my best to provide the best services possible for each child. I believe in working as a team with the medical associates, patients and families to provide compassionate and high-quality care. My medical interest include: Ultrasound  Musculoskeletal imaging I will keep learning to improve my services with updated knowledge and advanced technique, and ensure each child receives the best care possible. Dr. Guo is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. She is also highly rated in 84 other conditions, according to our data. Her clinical expertise encompasses Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Atelosteogenesis Type 2, and Diastrophic Dysplasia. Dr. Guo is board certified in American Board Of Radiology.

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    Last Updated: 04/28/2026

    What is the definition of Recessive Chondrodysplasia Punctata 1?

    Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, infants with CDPX1 have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses. Additional common features of CDPX1 are shortened fingers and a flattened nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and intellectual delays. CDPX1 is caused by genetic changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males.

    When should I see a Recessive Chondrodysplasia Punctata 1 doctor in Delaware, US?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Recessive Chondrodysplasia Punctata 1 doctor in Delaware, US?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How does MediFind rank Recessive Chondrodysplasia Punctata 1 doctors in Delaware, US?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Recessive Chondrodysplasia Punctata 1 doctors in Delaware, US?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Recessive Chondrodysplasia Punctata 1 doctor in Delaware, US?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Recessive Chondrodysplasia Punctata 1 doctor search results page. 

    Why is it important to get a second opinion from a different Recessive Chondrodysplasia Punctata 1 doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Recessive Chondrodysplasia Punctata 1 doctor in Delaware, US?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Recessive Chondrodysplasia Punctata 1 doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Recessive Chondrodysplasia Punctata 1 doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Recessive Chondrodysplasia Punctata 1 doctors in Delaware, US?

    Look for the filter feature on the left side of the Recessive Chondrodysplasia Punctata 1 doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Recessive Chondrodysplasia Punctata 1 doctor that offers video calls?

    Look for the filter feature on the left-side of the Recessive Chondrodysplasia Punctata 1 doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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