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    Last Updated: 01/09/2026

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    MediFind found 131 doctor with experience in Recessive Chondrodysplasia Punctata 1. Of these, 91 are Experienced and 40 are Advanced.

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    131 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, Spondylocarpotarsal Synostosis Syndrome, and Hip Replacement. Dr. Frino 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.

      Nancy Yeh
      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatrics
      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatrics

      Kennedy Krieger Institute

      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Nancy Yeh is a pediatric physiatrist and the medical director of the Inpatient Rehabilitation Unit at Kennedy Krieger Institute. Dr. Yeh is also an assistant professor of Physical Medicine and Rehabilitation at The Johns Hopkins University School of Medicine. Dr. Yeh received a bachelor’s of science degree from Rice University in Houston, Texas and medical degree from St. George’s University School of Medicine. She completed a residency in physical medicine and rehabilitation at Northwell Health in New York. Following residency, she completed a fellowship in pediatric rehabilitation medicine at Kennedy Krieger Institute and Johns Hopkins University School of Medicine in 2017 and later that year joined the faculty. Selected Publications Yeh, N., Slomine, B.S., Paasch, V. et al. Rehabilitation in Children with Disorder of Consciousness. Curr Phys Med Rehabil Rep 7, 94–103 (2019). Dr. Yeh is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Cerebral Palsy, Spastic Diplegia Infantile Type, Encephalitis, and Recessive Chondrodysplasia Punctata 1.

      Learn about our expert tiers
      Gregory S. Matthews
      Experienced in Recessive Chondrodysplasia Punctata 1
      Experienced in Recessive Chondrodysplasia Punctata 1

      Prisma Health Imaging Center–Greenville

      21 Orchard Park Drive, Suite A, 
      Greenville, SC 
      Languages Spoken:
      English

      Gregory Matthews is a Radiologist in Greenville, South Carolina. Dr. Matthews is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Scoliosis, Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, and Knock Knees.

      William K. Jones
      Experienced in Recessive Chondrodysplasia Punctata 1
      Experienced in Recessive Chondrodysplasia Punctata 1

      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 in Greenville, 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 Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Recessive Chondrodysplasia Punctata 1, Atypical Hemolytic Uremic Syndrome (aHUS), and Delayed Growth. Dr. Jones is currently accepting new patients.

      Michael P. Horan
      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics
      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics

      Prisma Health Orthopedics – Lexington

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

      Michael Horan is a Pediatric Orthopedics provider in Lexington, South Carolina. Dr. Horan is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Small Patella Syndrome, Sandhaus Ben-Ami Syndrome, Trochlear Dysplasia, and Recessive Chondrodysplasia Punctata 1. Dr. Horan is currently accepting new patients.

      Christopher C. Bray
      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics
      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics

      Prisma Health Pediatric Orthopedics–Greenville

      105 Doctors Drive, 
      Greenville, SC 
      Languages Spoken:
      English
      Accepting New Patients

      Christopher Bray is a Pediatric Orthopedics provider in Greenville, South Carolina. Dr. Bray is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Clubfoot, Sandhaus Ben-Ami Syndrome, Small Patella Syndrome, Hip Replacement, and Bone Graft. Dr. Bray is currently accepting new patients.

      Experienced in Recessive Chondrodysplasia Punctata 1
      Experienced in Recessive Chondrodysplasia Punctata 1

      Riley Hospital For Children At Indiana University Health

      705 Riley Hospital Dr, 
      Indianapolis, IN 
      Experience:
      10+ years
      Languages Spoken:
      English

      Maria Frazier is a Pediatrics provider in Indianapolis, Indiana. Dr. Frazier has been practicing medicine for over 10 years and is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Omphalocele, Recessive Chondrodysplasia Punctata 1, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Asthma in Children.

      Experienced in Recessive Chondrodysplasia Punctata 1
      Physiatry | Pediatrics
      Experienced in Recessive Chondrodysplasia Punctata 1
      Physiatry | Pediatrics

      PMR Outpatient Clinic

      Baltimore, MD 
      Languages Spoken:
      English, Spanish

      Laura Black is a Physiatrist and a Pediatrics provider in Baltimore, Maryland. Dr. Black is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Cerebral Palsy, Spastic Diplegia Infantile Type, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Recessive Chondrodysplasia Punctata 1.

      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatric Pulmonology
      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatric Pulmonology
      1201 West La Veta Avenue, 
      Orange, CA 
      Languages Spoken:
      English

      Sunil Kamath is a Pediatric Pulmonologist in Orange, California. Dr. Kamath is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Hypochondrogenesis, Asthma, Congenital Unilateral Pulmonary Hypoplasia, and Koolen De Vries Syndrome.

      Experienced in Recessive Chondrodysplasia Punctata 1
      Developmental and Behavioral Pediatrics | Pediatrics
      Experienced in Recessive Chondrodysplasia Punctata 1
      Developmental and Behavioral Pediatrics | Pediatrics

      Texas Scottish Rite Hospital For Children

      2222 Welborn St, 
      Dallas, TX 
      Experience:
      12+ years
      Languages Spoken:
      English

      Shanmuga Jonnalagadda is a Developmental and Behavioral Pediatrics specialist and a Pediatrics provider in Dallas, Texas. Dr. Jonnalagadda has been practicing medicine for over 12 years and is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Delayed Growth, Developmental Dysphasia Familial, Autism Spectrum Disorder, and Gastroschisis.

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

      Nemours DuPont Hospital For Children

      1600 Rockland Road, Billing Extracts, 
      Wilmington, DE 
      Languages Spoken:
      English

      Mary Harty is a Pediatric Radiologist and a Radiologist in Wilmington, Delaware. Dr. Harty is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Caffey Disease, X-Linked Spondyloepiphyseal Dysplasia Tarda, Kniest Dysplasia, and Spondyloenchondrodysplasia.

      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics
      Experienced in Recessive Chondrodysplasia Punctata 1
      Pediatric Orthopedics

      Primary Children's Hospital - Orthopedics

      100 North Mario Capecchi Drive, Suite 4550, 
      Salt Lake City, UT 
      Experience:
      26+ years
      Languages Spoken:
      English, French, Spanish
      Accepting New Patients
      Offers Telehealth

      Theresa Hennessey is a Pediatric Orthopedics provider in Salt Lake City, Utah. Dr. Hennessey has been practicing medicine for over 26 years and is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Clubfoot, Knock Knees, Arthrogryposis Multiplex Congenita, Osteotomy, and Tenotomy. Dr. Hennessey is currently accepting new patients.

      Experienced in Recessive Chondrodysplasia Punctata 1
      Neurosurgery
      Experienced in Recessive Chondrodysplasia Punctata 1
      Neurosurgery

      Texas Scottish Rite Hospital For Children

      2222 Welborn St, 
      Dallas, TX 
      Experience:
      42+ years
      Languages Spoken:
      English

      Dale Swift is a Neurosurgery provider in Dallas, Texas. Dr. Swift has been practicing medicine for over 42 years and is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Chiari Malformation Type 1, Chiari Malformation, Chiari Malformation Type 2, Posterior Fossa Decompression, and Endoscopy.

      Experienced in Recessive Chondrodysplasia Punctata 1
      Experienced in Recessive Chondrodysplasia Punctata 1

      The Johns Hopkins Hospital

      1800 Orleans Street, 
      Baltimore, MD 
      Languages Spoken:
      English

      Michelle Melicosta is a Pediatrics provider in Baltimore, Maryland. Dr. Melicosta is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Recessive Chondrodysplasia Punctata 1, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Rasmussen Encephalitis, and Neurogenic Bowel.

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

      The Nemours Foundation

      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 Fibrochondrogenesis, Kyphomelic Dysplasia, Mucopolysaccharidoses (MPS), and Kniest Dysplasia. Dr. Mackenzie is currently accepting new patients.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Hospital Medicine | Pediatrics
      Advanced in Recessive Chondrodysplasia Punctata 1
      Hospital Medicine | Pediatrics

      The Nemours Foundation

      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, Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, and Acrofacial Dysostosis Catania Type.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Advanced in Recessive Chondrodysplasia Punctata 1
      Sheffield, ENG, GB 

      Emily Woods practices in Sheffield, United Kingdom. Ms. Woods is rated as an Advanced expert by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Recessive Chondrodysplasia Punctata 1, Lateral Meningocele Syndrome, X-Linked Chondrodysplasia Punctata 2, and Chondrodysplasia Punctata Syndrome.

      Advanced in Recessive Chondrodysplasia Punctata 1
      Advanced in Recessive Chondrodysplasia Punctata 1
      Matsumoto, JP 

      Hiroki Oba practices in Matsumoto, Japan. Mr. Oba is rated as an Advanced expert by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Adolescent Idiopathic Scoliosis, Scoliosis, Kyphosis, Spinal Fusion, and Osteotomy.

      Showing 1-20 of 131

      Last Updated: 01/09/2026

      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 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 Recessive Chondrodysplasia Punctata 1 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 Recessive Chondrodysplasia Punctata 1 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 Recessive Chondrodysplasia Punctata 1 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 Recessive Chondrodysplasia Punctata 1 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 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 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 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 near me?

      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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