The 20 Best Chondrodysplasia Punctata Syndrome Doctors in The United States

Find the Top Chondrodysplasia Punctata Syndrome Experts and Specialists

Last Updated: 06/30/2026

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MediFind found 22 doctor with experience in Chondrodysplasia Punctata Syndrome near The United States. Of these, 15 are Experienced, 4 are Advanced, 2 are Elite and 1 are Distinguished.

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22 providers found
    Elite in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Elite in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Referral may be required
    601 N Caroline St, 
    Baltimore, MD 
    Languages Spoken:
    English

    Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Zellweger Syndrome, Acromesomelic Dysplasia, Achondrogenesis, and Acromesomelic Dysplasia Campailla Martinelli Type.

    Elite in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Elite in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Referral may be required
    707 N Broadway Ste 500, 
    Baltimore, MD 
    Languages Spoken:
    English

    Wedad Fallatah is a Medical Genetics provider practicing medicine in Baltimore, Maryland. Dr. Fallatah is rated as an Elite provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Achondrogenesis, and Acromesomelic Dysplasia.

    Distinguished in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Distinguished in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Referral may be required

    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 a Distinguished provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. He is also highly rated in 69 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.

    Learn about our expert tiers
    Advanced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Advanced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Referral may be required

    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 Chondrodysplasia Punctata Syndrome. 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.

    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Referral may be required

    UT Southwestern - Pediatric Genetics

    1935 Medical District Dr, 
    Dallas, TX 
    Languages Spoken:
    English, Spanish

    Laura Mackay is a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Mackay is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 132 other conditions, according to our data. Her clinical expertise encompasses Isovaleric Acidemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency.

    Advanced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Advanced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Referral may be required
    3333 Burnet Ave, Ml 4006, 
    Cincinnati, OH 
    Languages Spoken:
    English

    Howard Saal is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cincinnati, Ohio. Dr. Saal is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. 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.

    Advanced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Advanced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Referral may be required
    707 N Broadway, Room 526, 
    Baltimore, MD 
    Languages Spoken:
    English

    Lisa Kratz is a Medical Genetics provider practicing medicine in Baltimore, Maryland. Dr. Kratz is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses 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
    Referral may be required

    Iu Health Medical Group, LLC

    1701 N Senate Ave, 
    Indianapolis, IN 
    Languages Spoken:
    English
    Accepting New Patients

    Brett Graham is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Indianapolis, Indiana. Dr. Graham is rated as an Advanced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses MELAS Syndrome, Mitochondrial Complex 1 Deficiency, Smith-Magenis Syndrome, and Hypotonia. Dr. Graham is currently accepting new patients.

    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Referral may be required

    Nemours Children's Hospital, Florida

    6535 Nemours Parkway, 
    Orlando, FL 
    Experience:
    3+ years
    Languages Spoken:
    English

    Gifty Bhat is a Medical Genetics provider practicing medicine in Orlando, Florida. She has been practicing medicine for over 3 years. Dr. Bhat is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 134 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, HNRNPH2-Related Disorder, Chromosome 6q Duplication, and Chromosome 8p Deletion. Dr. Bhat is board certified in American Board Of Medical Genetics And Genomics.

    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Referral may be required
    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 practicing medicine in New Orleans, Louisiana. Dr. Lacassie is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Crouzon Syndrome, Learman Syndrome, Ring Chromosome 13, and Multiple Synostoses Syndrome 1.

    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    Louisiana State University School Of Med In New Orleans Faculty Grou

    200 Henry Clay Ave, 
    New Orleans, LA 
    Languages Spoken:
    English
    Accepting New Patients

    Regina Zambrano is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New Orleans, Louisiana. Dr. Zambrano is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her clinical expertise encompasses Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Hypotonia, and Split Hand Foot Malformation. Dr. Zambrano is currently accepting new patients.

    Experienced in Chondrodysplasia Punctata Syndrome
    Pediatrics | Medical Genetics
    Experienced in Chondrodysplasia Punctata Syndrome
    Pediatrics | Medical Genetics
    Referral may be required
    6701 Fannin St, 
    Houston, TX 
    Languages Spoken:
    English

    Michael Wangler is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Wangler is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Zellweger Syndrome, Cerebellar Hypoplasia, Hypotonia, and Weaver Syndrome.

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

    Carlos Prada is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Chicago, Illinois. Dr. Prada is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. He is also highly rated in 171 other conditions, according to our data. His clinical expertise encompasses RASopathies, Smith-Kingsmore Syndrome, Neurofibromatosis Type 1 (NF1), and Achondroplasia.

    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Anesthesiology | Pediatrics
    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Anesthesiology | Pediatrics
    Referral may be required

    Peyton Manning Children's Hospital-Indianapolis Medical Genetics & Neurodevelopmental Pediatrics

    8402 Harcourt Rd Ste 300, 
    Indianapolis, IN 
    Languages Spoken:
    English

    Luis Escobar is a Medical Genetics specialist and an Anesthesiologist practicing medicine in Indianapolis, Indiana. Dr. Escobar is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. His clinical expertise encompasses Micrognathia, Chondrodysplasia Punctata Syndrome, Recessive Chondrodysplasia Punctata 1, and Chondrodysplasia Punctata with Steroid Sulfatase Deficiency.

    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    C. S. Mott Children's Hospital

    1540 E Hospital Dr, Floor 6 Reception C, 
    Ann Arbor, MI 
    Languages Spoken:
    English

    Christina Sloan is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Sloan is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 115 other conditions, according to our data. Her clinical expertise encompasses Chromosome 6q Duplication, Chromosome 8p Deletion, Delayed Growth, and Fragile X Syndrome. Dr. Sloan is board certified in Medical Biochemical Genetics and Clinical Genetics & Genomics.

    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    Children's Hospital Medical Center

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

    Amelle Shillington is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cincinnati, Ohio. Dr. Shillington is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 161 other conditions, according to our data. Her clinical expertise encompasses Chromosome 13q Deletion, Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism, Hardikar Syndrome, and Filippi Syndrome. Dr. Shillington is currently accepting new patients.

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

    Forbes Porter is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Bethesda, Maryland. Dr. Porter is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics
    Referral may be required
    1 Baylor Plz # Bcm225, 
    Houston, TX 
    Languages Spoken:
    English

    Sarah Elsea is a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Elsea is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Smith-Magenis Syndrome, Potocki-Lupski Syndrome, Hypotonia, and Zellweger Syndrome.

    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Experienced in Chondrodysplasia Punctata Syndrome
    Medical Genetics | Pediatrics
    Referral may be required

    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 practicing medicine in Houston, Texas. Dr. Hillman is rated as an Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Angelman Syndrome, Microcephaly, and Tetrasomy 9p. 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
    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 Experienced provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Recessive Chondrodysplasia Punctata 1, West Syndrome, Adrenoleukodystrophy (ALD), and CACH Syndrome.

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    Last Updated: 06/30/2026

    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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