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    Last Updated: 10/30/2025

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    MediFind found 95 doctor with experience in Recessive Chondrodysplasia Punctata 1 near The United States. Of these, 76 are Experienced and 19 are Advanced.

    Location
    LocationClose
    95 providers found
      Experienced in Recessive Chondrodysplasia Punctata 1
      Orthopedics
      Experienced in Recessive Chondrodysplasia Punctata 1
      Orthopedics
      Medical Center Blvd, 
      Winston Salem, NC 
      Languages Spoken:
      English
      Accepting New Patients

      John Frino is an Orthopedics provider in Winston Salem, North Carolina. Dr. Frino is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Scoliosis, Knock Knees, Clubfoot, Caudal Regression Syndrome, and Hip Replacement. Dr. Frino is currently accepting new patients.

      Experienced in Recessive Chondrodysplasia Punctata 1
      Experienced in Recessive Chondrodysplasia Punctata 1
      800 N A St, 
      Easley, SC 
      Languages Spoken:
      English
      Accepting New Patients

      William Jones is a Pediatrics provider in Easley, South Carolina. Dr. Jones is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Recessive Chondrodysplasia Punctata 1, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Atypical Hemolytic Uremic Syndrome (aHUS), and Delayed Growth. Dr. Jones is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Advanced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics | Orthopedics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics | Orthopedics
      1600 Rockland Rd, 
      Wilmington, DE 
      Languages Spoken:
      English
      Accepting New Patients

      William Mackenzie is a Pediatric Orthopedics specialist and an Orthopedics provider in Wilmington, Delaware. Dr. Mackenzie is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Cartilage-Hair Hypoplasia, Acromesomelic Dysplasia Hunter Thompson Type, Metatropic Dysplasia, and Desbuquois Syndrome. Dr. Mackenzie is currently accepting new patients.

      Learn about our expert tiers
      Advanced in Recessive Chondrodysplasia Punctata 1
      Hospital Medicine | Pediatrics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Hospital Medicine | Pediatrics
      1600 Rockland Rd, 
      Wilmington, DE 
      Languages Spoken:
      English
      Accepting New Patients

      Ricki Carroll is a Hospital Medicine specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Carroll is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Thanatophoric Dysplasia, Spondyloepiphyseal Dysplasia, Diastrophic Dysplasia, Acromicric Dysplasia, and Osteotomy. Dr. Carroll is currently accepting new patients.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Medical Genetics | Pediatrics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Medical Genetics | Pediatrics
      3333 Burnet Ave, Ml 4006, 
      Cincinnati, OH 
      Languages Spoken:
      English

      Howard Saal is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Saal is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Achondroplasia, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, and Acrofacial Dysostosis Catania Type.

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

      The Nemours Foundation

      1717 S Orange Ave, 100 Childrens Clinic, 
      Orlando, FL 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Kerry Bron is a Pediatric Radiologist and a Radiologist in Orlando, Florida. Dr. Bron is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Kniest Dysplasia, and Dyggve-Melchior-Clausen Syndrome. Dr. Bron is currently accepting new patients.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Orthopedics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Orthopedics
      2211 North Oak Park Avenue, Suite 3a, 
      Chicago, IL 
      Languages Spoken:
      English

      Purnendu Gupta is an Orthopedics provider in Chicago, Illinois. Dr. Gupta is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Scoliosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Recessive Chondrodysplasia Punctata 1, 15q11.2 Microdeletion, and Spinal Fusion.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics | Orthopedics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics | Orthopedics
      333 Earle Ovington Blvd, 
      Uniondale, NY 
      Languages Spoken:
      English

      Cathleen Raggio is a Pediatric Orthopedics specialist and an Orthopedics provider in Uniondale, New York. Dr. Raggio is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Osteogenesis Imperfecta, Brachydactyly Mononen Type, Achondroplasia, and Chondrodystrophy.

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

      Maura Ruzhnikov is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Ruzhnikov is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Recessive Chondrodysplasia Punctata 1, West Syndrome, Adrenoleukodystrophy (ALD), and CACH Syndrome.

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

      Lpch Medical Group Div Of Lucile

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

      David Stevenson is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Stevenson is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Neurofibromatosis Type 1 (NF1), Neurofibromatosis, RASopathies, Costello Syndrome, and Deep Brain Stimulation.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Medical Genetics | Pediatrics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Medical Genetics | Pediatrics
      1600 Rockland Rd, 
      Wilmington, DE 
      Languages Spoken:
      English
      Accepting New Patients

      Mahim Jain is a Medical Genetics specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Jain is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Osteogenesis Imperfecta, Spondyloepimetaphyseal Dysplasia Strudwick Type, Miller-Dieker Syndrome, and Lissencephaly 1. Dr. Jain is currently accepting new patients.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Neurosurgery | Pediatric Surgery
      Advanced in Recessive Chondrodysplasia Punctata 1
      Neurosurgery | Pediatric Surgery
      1701 N Senate Blvd, 
      Indianapolis, IN 
      Languages Spoken:
      English
      Accepting New Patients

      Laurie Ackerman is a Neurosurgery specialist and a Pediatric Surgeon in Indianapolis, Indiana. Dr. Ackerman is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Tethered Cord Syndrome, Chiari Malformation, Chiari Malformation Type 2, Posterior Fossa Decompression, and Laminectomy. Dr. Ackerman is currently accepting new patients.

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

      Pornchai Tirakitsoontorn is a Pediatric Pulmonologist in Orange, California. Dr. Tirakitsoontorn is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Hypochondrogenesis, Cystic Fibrosis, Congenital Unilateral Pulmonary Hypoplasia, and Asthma. Dr. Tirakitsoontorn is currently accepting new patients.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Pediatric Pulmonology | Pulmonary Medicine
      Advanced in Recessive Chondrodysplasia Punctata 1
      Pediatric Pulmonology | Pulmonary Medicine

      Children's Hospital Medical Center

      3333 Burnet Ave, 
      Cincinnati, OH 
      Languages Spoken:
      English
      Accepting New Patients

      Dan Benscoter is a Pediatric Pulmonologist and a Pulmonary Medicine provider in Cincinnati, Ohio. Dr. Benscoter is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Tracheobronchomalacia, Tracheoesophageal Fistula, Mounier-Kuhn Syndrome, Endoscopy, and Gastrostomy. Dr. Benscoter is currently accepting new patients.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics | Orthopedics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics | Orthopedics
      Lexington, KY 
      Languages Spoken:
      English

      Vishwas Talwalkar is a Pediatric Orthopedics specialist and an Orthopedics provider in Lexington, Kentucky. Dr. Talwalkar is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Clubfoot, Scoliosis, Legg-Calve-Perthes Disease (LCPD), Tenotomy, and Spinal Fusion.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Medical Genetics | Pediatrics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Medical Genetics | Pediatrics
      1002 Wishard Blvd, 
      Indianapolis, IN 
      Languages Spoken:
      English
      Accepting New Patients

      Brett Graham is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Graham is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are MELAS Syndrome, Mitochondrial Complex 1 Deficiency, Smith-Magenis Syndrome, and Hypotonia. Dr. Graham is currently accepting new patients.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Pain Medicine
      Advanced in Recessive Chondrodysplasia Punctata 1
      Pain Medicine

      Oroville Hospital

      2721 Olive Hwy, 
      Oroville, CA 
      Languages Spoken:
      English

      Jerry Waters is a Pain Medicine provider in Oroville, California. Dr. Waters is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Sciatica, Recessive Chondrodysplasia Punctata 1, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Shingles.

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

      Regents Of The University Of Michigan

      4260 Plymouth Rd, 
      Ann Arbor, MI 
      Languages Spoken:
      English

      Hugh Garton is a Neurosurgery provider in Ann Arbor, Michigan. Dr. Garton is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Chiari Malformation, Chiari Malformation Type 1, Chiari Malformation Type 2, Posterior Fossa Decompression, and Gamma Knife Radiosurgery.

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

      Regents Of The University Of Michigan

      1051 N Canton Ctr Rd, 
      Canton, MI 
      Languages Spoken:
      English

      Gertrude Li is an Orthopedics specialist and a Pediatric Orthopedics provider in Canton, Michigan. Dr. Li is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Scoliosis, Beukes Familial Hip Dysplasia, Spondylocarpotarsal Synostosis Syndrome, and Caudal Regression Syndrome.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Orthopedics | Pediatric Orthopedics | Pediatrics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Orthopedics | Pediatric Orthopedics | Pediatrics

      Regents Of The University Of Michigan

      1051 N Canton Ctr Rd, 
      Canton, MI 
      Languages Spoken:
      English
      Accepting New Patients

      Matthew Stepanovich is an Orthopedics specialist and a Pediatric Orthopedics provider in Canton, Michigan. Dr. Stepanovich is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Scoliosis, Beukes Familial Hip Dysplasia, Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, and Osteotomy. Dr. Stepanovich is currently accepting new patients.

      Showing 1-20 of 95

      Last Updated: 10/30/2025

      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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