The 20 Best Recessive Chondrodysplasia Punctata 1 Doctors in The United States

Find the Top Recessive Chondrodysplasia Punctata 1 Experts and Specialists

Last Updated: 11/08/2026

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MediFind found 94 doctor with experience in Recessive Chondrodysplasia Punctata 1 near The United States. Of these, 74 are Experienced and 20 are Advanced.

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94 providers found
    Experienced in Recessive Chondrodysplasia Punctata 1
    Pediatric Orthopedics
    Experienced in Recessive Chondrodysplasia Punctata 1
    Pediatric Orthopedics
    Referral may be required

    Prisma Health Orthopedics – Lexington

    104 Saluda Pointe Drive, 
    Lexington, SC 
    Languages Spoken:
    English
    Accepting New Patients

    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 Recessive Chondrodysplasia Punctata 1. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Small Patella Syndrome, Sandhaus Ben-Ami Syndrome, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Recessive Chondrodysplasia Punctata 1. Dr. Horan is board certified in American Board Of Orthopaedic Surgery. Dr. Horan is currently accepting new patients.

    Experienced in Recessive Chondrodysplasia Punctata 1
    Experienced in Recessive Chondrodysplasia Punctata 1
    Referral may be required

    Prisma Health Ferlauto Center For Complex Pediatric Care

    200 Patewood Drive, Suite A100, 
    Greenville, SC 
    Languages Spoken:
    English
    Accepting New Patients

    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 Recessive Chondrodysplasia Punctata 1. 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.

    Experienced in Recessive Chondrodysplasia Punctata 1
    Orthopedics
    Experienced in Recessive Chondrodysplasia Punctata 1
    Orthopedics
    Referral may be required

    Shriners Hospitals For Children-Greenville

    950 W Faris Rd, 
    Greenville, SC 
    Languages Spoken:
    English
    Accepting New Patients

    John Frino is an Orthopedics provider practicing medicine in Greenville, South Carolina. Dr. Frino is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Knock Knees, Clubfoot, Spinal Fusion, and Hip Replacement. Dr. Frino is currently accepting new patients.

    Learn about our expert tiers
    Advanced in Recessive Chondrodysplasia Punctata 1
    Advanced in Recessive Chondrodysplasia Punctata 1
    Referral may be required

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Languages Spoken:
    English
    Accepting New Patients

    William Mackenzie is an Orthopedics provider practicing medicine in Orlando, Florida. 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 Craniometaphyseal Dysplasia, Mucopolysaccharidoses (MPS), Kyphomelic Dysplasia, and Spondyloepimetaphyseal Dysplasia Joint Laxity. Dr. Mackenzie is board certified in American Board Of Orthopaedic Surgery. Dr. Mackenzie is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Referral may be required

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Languages Spoken:
    English
    Accepting New Patients

    Ricki Carroll is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Carroll is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. She is also highly rated in 65 other conditions, according to our data. Her clinical expertise encompasses Achondroplasia, Thanatophoric Dysplasia, Spondyloepiphyseal Dysplasia, Osteotomy, and Spinal Fusion. Dr. Carroll is board certified in American Board Of Pediatrics. Dr. Carroll is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Radiology
    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Radiology | Radiology
    Referral may be required

    Nemours Children's Health, Jacksonville

    807 Children's Way, 
    Jacksonville, FL 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Kerry Bron is a Pediatric Radiologist and a Radiologist practicing medicine in Jacksonville, Florida. 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 Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Otospondylomegaepiphyseal Dysplasia, and Weissenbacher-Zweymuller Syndrome. Dr. Bron is board certified in American Board Of Radiology. Dr. Bron is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Referral may be required

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Languages Spoken:
    English
    Accepting New Patients

    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. Dr. Jain is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Neurosurgery
    Advanced in Recessive Chondrodysplasia Punctata 1
    Neurosurgery
    Referral may be required

    C. S. Mott Children's Hospital

    1540 E Hospital Dr, Floor 3 Reception B, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Hugh Garton is a Neurosurgery provider practicing medicine in Ann Arbor, Michigan. Dr. Garton is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. He is also highly rated in 73 other conditions, according to our data. His clinical expertise encompasses Chiari Malformation, Chiari Malformation Type 1, Chiari Malformation Type 2, Posterior Fossa Decompression, and Gamma Knife Radiosurgery. Dr. Garton is board certified in Neurological Surgery. Dr. Garton is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Orthopedics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Orthopedics
    Referral may be required

    Pediatric Orthopaedic Surgery Clinic

    1540 E Hospital Dr, Floor 3 Reception C, 
    Ann Arbor, MI 
    Languages Spoken:
    English, Cantonese
    Accepting New Patients

    Gertrude Li is an Orthopedics provider practicing medicine in Ann Arbor, Michigan. Dr. Li is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. 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. Dr. Li is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Orthopedics | Pediatrics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Orthopedics | Pediatrics
    Referral may be required

    Orthopaedic Surgery Clinic

    7500 Challis Rd, Entrance 1, Level 1, 
    Brighton, MI 
    Languages Spoken:
    English
    Accepting New Patients

    Matthew Stepanovich is an Orthopedics specialist and a Pediatrics provider practicing medicine in Brighton, Michigan. Dr. Stepanovich is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. 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, Spinal Fusion, and Osteotomy. Dr. Stepanovich is board certified in Orthopedic Surgery. Dr. Stepanovich is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Referral may be required

    Nemours Children's Hospital, Delaware

    1600 Rockland Road, 
    Wilmington, DE 
    Languages Spoken:
    English
    Accepting New Patients

    Michael Bober is a Medical Genetics provider practicing medicine in Wilmington, Delaware. 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 Spinal Fusion. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics. Dr. Bober is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics
    Referral may be required
    3333 Burnet Ave, Ml 4006, 
    Cincinnati, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Howard Saal is a Medical Genetics provider practicing medicine in Cincinnati, Ohio. Dr. Saal is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. He is also highly rated in 200 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, and Acrofacial Dysostosis Catania Type. Dr. Saal is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Orthopedics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Orthopedics
    Referral may be required

    Shriners Hospitals For Children-Chicago

    2211 N Oak Park Ave, 
    Chicago, IL 
    Languages Spoken:
    English

    Purnendu Gupta is a Pediatric Orthopedics provider practicing medicine in Chicago, Illinois. Dr. Gupta is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. He is also highly rated in 43 other conditions, according to our data. His clinical expertise encompasses Recessive Chondrodysplasia Punctata 1, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, 15q11.2 Microdeletion, Spinal Fusion, and Osteotomy.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Orthopedics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Orthopedics
    Referral may be required

    HSS Long Island

    333 Earle Ovington Blvd Ste 101, 
    Uniondale, NY 
    Languages Spoken:
    English
    Accepting New Patients

    Cathleen Raggio is a Pediatric Orthopedics provider practicing medicine in Uniondale, New York. Dr. Raggio is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Diastrophic Dysplasia, Pseudoachondroplasia, Recessive Chondrodysplasia Punctata 1, and Chondrodysplasia Punctata with Steroid Sulfatase Deficiency. Dr. Raggio is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics | Pediatrics | Pediatric Neurology
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics | Pediatrics | Pediatric Neurology
    Referral may be required
    725 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English

    Maura Ruzhnikov is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Palo Alto, California. Dr. Ruzhnikov is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Recessive Chondrodysplasia Punctata 1, West Syndrome, Adrenoleukodystrophy (ALD), and CACH Syndrome.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatrics | Neurology
    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatrics | Neurology
    Referral may be required
    333 Corporate Drive, Suite 110, 
    Ladera Ranch, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Ying Peng is a Pediatrics specialist and a Neurologist practicing medicine in Ladera Ranch, California. Dr. Peng is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. She is also highly rated in 36 other conditions, according to our data. Her clinical expertise encompasses Memory Loss, Seizures, West Syndrome, Thrombectomy, and Thyroidectomy. Dr. Peng is board certified in American Board Of Psychiatry And Neurology. Dr. Peng is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics | Pediatrics
    Advanced in Recessive Chondrodysplasia Punctata 1
    Medical Genetics | Pediatrics
    Referral may be required

    Lpch Medical Group Div Of Lucile

    725 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English
    Offers Telehealth

    David Stevenson is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Palo Alto, California. Dr. Stevenson is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. He is also highly rated in 99 other conditions, according to our data. His clinical expertise encompasses Neurofibromatosis, Neurofibromatosis Type 1 (NF1), RASopathies, Costello Syndrome, and Deep Brain Stimulation.

    Advanced in Recessive Chondrodysplasia Punctata 1
    General Surgery
    Advanced in Recessive Chondrodysplasia Punctata 1
    General Surgery
    Referral may be required

    Office

    702 Barnhill Dr Rm 1134, 
    Indianapolis, IN 
    Languages Spoken:
    English
    Accepting New Patients

    Laurie Ackerman is a General Surgeon practicing medicine in Indianapolis, Indiana. Dr. Ackerman is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Baller-Gerold Syndrome, Sunken Fontanelles, Lhermitte-Duclos Disease, Posterior Fossa Decompression, and Spinal Fusion. Dr. Ackerman is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Advanced in Recessive Chondrodysplasia Punctata 1
    Referral may be required

    Cincinnati Childrens Hospital Medical Center Liberty Campus

    7777 Yankee Rd, 
    Liberty Township, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Dan Benscoter-Iii is a Pediatrics provider practicing medicine in Liberty Township, Ohio. Dr. Benscoter-Iii is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Congenital Bronchobiliary Fistula, Mounier-Kuhn Syndrome, Tracheal Agenesis, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome). Dr. Benscoter-Iii is currently accepting new patients.

    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Pulmonology
    Advanced in Recessive Chondrodysplasia Punctata 1
    Pediatric Pulmonology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    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 Recessive Chondrodysplasia Punctata 1. He is also highly rated in 12 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.

    Showing 1-20 of 94

    Last Updated: 11/08/2026

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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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