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    Last Updated: 10/30/2025

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    MediFind found 406 doctor with experience in Chondrodysplasia Punctata Syndrome. Of these, 300 are Experienced, 85 are Advanced, 19 are Distinguished and 2 are Elite.

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    406 providers found
      Elite in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Elite in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      601 N Caroline St, 
      Baltimore, MD 
      Languages Spoken:
      English

      Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.

      Elite in Chondrodysplasia Punctata Syndrome
      Elite in Chondrodysplasia Punctata Syndrome
      Montreal, QC, CA 

      Erminia Di Pietro practices in Montreal, Canada. Ms. Di Pietro is rated as an Elite expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, Zellweger Syndrome, and Achondrogenesis.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Distinguished in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Distinguished in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      A.i. Dupont Hospital For Children, 1600 Rockland Road, 
      Wilmington, DE 
      Languages Spoken:
      English
      Accepting New Patients

      Michael Bober is a Medical Genetics specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Bober is rated as a Distinguished provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is currently accepting new patients.

      Learn about our expert tiers
      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Amsterdam, NH, NL 

      Bwee The-Poll practices in Amsterdam, Netherlands. The-Poll is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Their top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Pontocerebellar Hypoplasia.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Poitiers, FR 

      Fabienne Dufernez practices in Poitiers, France. Ms. Dufernez is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Achondrogenesis.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Amsterdam, NH, NL 

      Hans Waterham practices in Amsterdam, Netherlands. Mr. Waterham is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Zellweger Syndrome, Refsum Disease, X-Linked Chondrodysplasia Punctata 2, and Chondrodysplasia Punctata Syndrome.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Porto, PT 

      Pedro Brites practices in Porto, Portugal. Mr. Brites is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Krabbe Disease, and Hyperglycerolemia.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Porto, PT 

      Ana Malheiro practices in Porto, Portugal. Ms. Malheiro is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, Krabbe Disease, and Metachromatic Leukodystrophy.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Prince Albert, SK, CA 

      Tara Smith practices in Prince Albert, Canada. Ms. Smith is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Acromesomelic Dysplasia, and Acromesomelic Dysplasia Campailla Martinelli Type.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Freiburg, BW, DE 

      Rudolf Happle practices in Freiburg, Germany. Mr. Happle is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Cutis Marmorata Telangiectatica Congenita, Mosaicism, Focal Dermal Hypoplasia, and Punctate Porokeratosis.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Nagoya, JP 

      Takuya Takeichi practices in Nagoya, Japan. Mr. Takeichi is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Nonbullous Congenital Ichthyosiform Erythroderma, Lamellar Ichthyosis, Epidermolytic Hyperkeratosis, Pityriasis Rubra Pilaris, and Tissue Biopsy.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Prince Albert, SK, CA 

      Shawn Ritchie practices in Prince Albert, Canada. Ritchie is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Their top areas of expertise are X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, Acromesomelic Dysplasia Hunter Thompson Type, Colonoscopy, and Endoscopy.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Vienna, AT 

      Johannes Berger practices in Vienna, Austria. Mr. Berger is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Adrenoleukodystrophy (ALD), Addison's Disease, CACH Syndrome, and X-Linked Chondrodysplasia Punctata 2.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Riyadh, SA 

      Haroon Javaid practices in Riyadh, Saudi Arabia. Mr. Javaid is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Acatalasemia, Rhizomelic Syndrome, X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, and Tenotomy.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Shizuoka, JP 

      Yoh Fujimoto practices in Shizuoka, Japan. Fujimoto is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Their top areas of expertise are Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Achondrogenesis, and Acromesomelic Dysplasia.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Amsterdam, NH, NL 

      Ronald Wanders practices in Amsterdam, Netherlands. Mr. Wanders is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Zellweger Syndrome, Refsum Disease, Barth Syndrome, and Infantile Refsum Disease.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Nagoya, JP 

      Masashi Akiyama practices in Nagoya, Japan. Mr. Akiyama is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Nonbullous Congenital Ichthyosiform Erythroderma, Generalized Pustular Psoriasis (GPP), Lamellar Ichthyosis, Pustular Psoriasis, and Tissue Biopsy.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Janssen R&D, 
      Beerse, VLG, BE 

      Marc Engelen practices in Beerse, Belgium. Mr. Engelen is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Adrenoleukodystrophy (ALD), Addison's Disease, CACH Syndrome, Zellweger Syndrome, and Thrombectomy.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Vienna, AT 

      Fabian Dorninger practices in Vienna, Austria. Mr. Dorninger is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Rhizomelic Syndrome, X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, and Refsum Disease.

      Distinguished in Chondrodysplasia Punctata Syndrome
      Distinguished in Chondrodysplasia Punctata Syndrome
      Paris, FR 

      Antonin Lamaziere practices in Paris, France. Mr. Lamaziere is rated as a Distinguished expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Familial Glucocorticoid Deficiency.

      Showing 1-20 of 406

      Last Updated: 10/30/2025

      What is the definition of Chondrodysplasia Punctata Syndrome?

      A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.

      When should I see a Chondrodysplasia Punctata Syndrome doctor near me?

      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 Chondrodysplasia Punctata Syndrome doctor near me?

      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 Chondrodysplasia Punctata Syndrome doctors near me?

      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 Chondrodysplasia Punctata Syndrome doctors near me?

      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 Chondrodysplasia Punctata Syndrome doctor near me?

      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 Chondrodysplasia Punctata Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Chondrodysplasia Punctata Syndrome 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 Chondrodysplasia Punctata Syndrome doctor near me?

      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 Chondrodysplasia Punctata Syndrome 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 Chondrodysplasia Punctata Syndrome 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 Chondrodysplasia Punctata Syndrome doctors near me?

      Look for the filter feature on the left side of the Chondrodysplasia Punctata Syndrome 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 Chondrodysplasia Punctata Syndrome doctor that offers video calls?

      Look for the filter feature on the left-side of the Chondrodysplasia Punctata Syndrome 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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