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    Last Updated: 10/30/2025

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    MediFind found 20 doctor with experience in Chondrodysplasia Punctata Syndrome near The United States. Of these, 14 are Experienced, 4 are Advanced, 1 are Distinguished and 1 are Elite.

    Location
    LocationClose
    20 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.

      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.

      Advanced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Advanced in Chondrodysplasia Punctata Syndrome
      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 Chondrodysplasia Punctata Syndrome. His top areas of expertise are Achondroplasia, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, and Acrofacial Dysostosis Catania Type.

      Learn about our expert tiers
      Advanced in Chondrodysplasia Punctata Syndrome
      Medical Genetics
      Advanced in Chondrodysplasia Punctata Syndrome
      Medical Genetics
      707 N Broadway, Room 526, 
      Baltimore, MD 
      Languages Spoken:
      English

      Lisa Kratz is a Medical Genetics provider in Baltimore, Maryland. Dr. Kratz is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Greenberg Dysplasia, Smith-Lemli-Opitz Syndrome, Rhizomelic Syndrome, and Chondrodysplasia Punctata Syndrome.

      Advanced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Advanced in Chondrodysplasia Punctata Syndrome
      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 Chondrodysplasia Punctata Syndrome. 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 Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Advanced in Chondrodysplasia Punctata Syndrome
      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 Chondrodysplasia Punctata Syndrome. 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.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Children's Hospital - Genetics, 200 Henry Clay Avenue, 
      New Orleans, LA 
      Languages Spoken:
      English

      Yves Lacassie is a Medical Genetics specialist and a Pediatrics provider in New Orleans, Louisiana. Dr. Lacassie is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Crouzon Syndrome, Learman Syndrome, Ring Chromosome 13, and Multiple Synostoses Syndrome 1.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics
      200 Henry Clay Ave, Suite 2308, 
      New Orleans, LA 
      Languages Spoken:
      English
      Accepting New Patients

      Regina Zambrano is a Medical Genetics provider in New Orleans, Louisiana. Dr. Zambrano is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Lissencephaly, X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, and Hypotonia. Dr. Zambrano is currently accepting new patients.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      225 E Chicago Ave # 59, 
      Chicago, IL 
      Languages Spoken:
      English

      Carlos Prada is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Prada is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are RASopathies, Gaucher Disease, Achondroplasia, and Gaucher Disease Type 1.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Anesthesiology | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Anesthesiology | Pediatrics

      St Vincent Pediatric Subspecialties

      8402 Harcourt Rd, 
      Indianapolis, IN 
      Languages Spoken:
      English
      Accepting New Patients

      Luis Escobar is a Medical Genetics specialist and an Anesthesiologist in Indianapolis, Indiana. Dr. Escobar is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Micrognathia, Recessive Chondrodysplasia Punctata 1, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and X-Linked Chondrodysplasia Punctata 2. Dr. Escobar is currently accepting new patients.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics

      Regents Of The University Of Michigan

      1500 E Medical Ctr, Suite 0331, 
      Ann Arbor, MI 
      Languages Spoken:
      English

      Christina Sloan is a Medical Genetics specialist and a Pediatrics provider in Ann Arbor, Michigan. Dr. Sloan is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Chromosome 8p Deletion, Chromosome 6q Duplication, Delayed Growth, and Fragile XE Syndrome.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics

      Children's Hospital Medical Center

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

      Amelle Shillington is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Shillington is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Chromosome 13q Deletion, Van Maldergem Syndrome, Polysyndactyly Cardiac Malformation, and Bardet-Biedl Syndrome. Dr. Shillington is currently accepting new patients.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      1801 W Taylor St Ste 2e, Ui Health Occ, 
      Chicago, IL 
      Languages Spoken:
      English
      Accepting New Patients

      Gifty Bhat is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Bhat is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Microcephaly, HNRNPH2-Related Disorder, Chromosome 6q Duplication, and Chromosome 8p Deletion. Dr. Bhat is currently accepting new patients.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      10 Center Dr, 10-crc, Room 5-2571, 
      Bethesda, MD 
      Languages Spoken:
      English

      Forbes Porter is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Porter is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      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 Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Neurofibromatosis Type 1 (NF1), Neurofibromatosis, RASopathies, Costello Syndrome, and Deep Brain Stimulation.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics

      UT Physicians

      6410 Fannin St, 
      Houston, TX 
      Languages Spoken:
      English, French, Swahili
      Accepting New Patients

      Paul Hillman is a Medical Genetics specialist and a Pediatrics provider in Houston, Texas. Dr. Hillman is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Angelman Syndrome, Microcephaly, and Temple Syndrome. Dr. Hillman is currently accepting new patients.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics | Pediatric Neurology
      Experienced in Chondrodysplasia Punctata Syndrome
      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 Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Recessive Chondrodysplasia Punctata 1, West Syndrome, Adrenoleukodystrophy (ALD), and CACH Syndrome.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics
      6431 Fannin St, Msb 3.020b, 
      Houston, TX 
      Languages Spoken:
      English
      Accepting New Patients

      Laura Farach is a Medical Genetics provider in Houston, Texas. Dr. Farach is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Cortical Dysplasia, Mosaicism, Chondrodystrophy, and X-Linked Chondrodysplasia Punctata 2. Dr. Farach is currently accepting new patients.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics
      207 Perry Pkwy, 
      Gaithersburg, MD 
      Languages Spoken:
      English

      Gabriele Richard is a Medical Genetics provider in Gaithersburg, Maryland. Dr. Richard is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Naegeli-Franceschetti-Jadassohn Syndrome, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Microphthalmia, and Cortical Dysplasia.

      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      Experienced in Chondrodysplasia Punctata Syndrome
      Medical Genetics | Pediatrics
      51 N Dunlap St Ste 400, 
      Memphis, TN 
      Languages Spoken:
      English, German, Hungarian
      Accepting New Patients
      Offers Telehealth

      Eniko Pivnick is a Medical Genetics specialist and a Pediatrics provider in Memphis, Tennessee. Dr. Pivnick is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Temple Syndrome, De Barsy Syndrome, Hypotonia, and Autism Spectrum Disorder. Dr. Pivnick is currently accepting new patients.

      Showing 1-20 of 20

      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 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 Chondrodysplasia Punctata Syndrome 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 Chondrodysplasia Punctata Syndrome 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 Chondrodysplasia Punctata Syndrome 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 Chondrodysplasia Punctata Syndrome 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 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 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 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 in The United States?

      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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