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    Last Updated: 10/30/2025

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    MediFind found 27 doctor with experience in Perlman Syndrome near North Carolina, US. Of these, 26 are Experienced and 1 are Advanced.

    Location
    LocationClose
    27 providers found
      Stefanie A. Kienker
      Experienced in Perlman Syndrome
      Nurse Practitioner | Pediatrics
      Experienced in Perlman Syndrome
      Nurse Practitioner | Pediatrics

      Atrium Health Levine Children's Sleep Medicine

      4501 Cameron Valley Parkway, Suite 300, 
      Charlotte, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Stefanie Kienker is a Pediatrics specialist and a Nurse Practitioner in Charlotte, North Carolina. Ms. Kienker is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Marshall-Smith Syndrome, Simpson-Golabi-Behmel Syndrome, Cantu Syndrome, and Perlman Syndrome. Ms. Kienker is currently accepting new patients.

      Majd Makhoul
      Experienced in Perlman Syndrome
      Pediatric Cardiology
      Experienced in Perlman Syndrome
      Pediatric Cardiology

      Atrium Health Levine Children's HEARTest Yard Congenital Heart Center

      1001 Blythe Blvd., Suite 500, 
      Charlotte, NC 
      Languages Spoken:
      English
      Accepting New Patients

      Majd Makhoul is a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Makhoul is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are X-Linked Cardiac Valvular Dysplasia, Cardiac Diverticulum, Congenital Heart Disease (CHD), and Congenital Mitral Malformation. Dr. Makhoul is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Chad T. Jacobsen
      Experienced in Perlman Syndrome
      Hematology | Oncology
      Experienced in Perlman Syndrome
      Hematology | Oncology

      Atrium Health Levine Children’s Cancer & Blood Disorders, A Facility Of Carolinas Medical Center

      1001 Blythe Blvd., Suite 3000, 
      Charlotte, NC 
      Experience:
      28+ years
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Chad Jacobsen is a Hematologist and an Oncologist in Charlotte, North Carolina. Dr. Jacobsen has been practicing medicine for over 28 years and is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Neurofibromatosis Type 1 (NF1), Medulloblastoma, Neurofibromatosis, and Embryonal Tumor with Multilayered Rosettes. Dr. Jacobsen is currently accepting new patients.

      Learn about our expert tiers
      Amy Kelly
      Experienced in Perlman Syndrome
      Nurse Practitioner | Hematology | Oncology
      Experienced in Perlman Syndrome
      Nurse Practitioner | Hematology | Oncology

      Atrium Health Levine Children’s Cancer & Blood Disorders, A Facility Of Carolinas Medical Center

      1001 Blythe Blvd., Suite 3000, 
      Charlotte, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Amy Kelly is a Hematologist and an Oncologist in Charlotte, North Carolina. Ms. Kelly is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Pediatric Low-Grade Glioma (pLGG), Marshall-Smith Syndrome, Megalencephaly-Capillary Malformation Syndrome, and Perlman Syndrome. Ms. Kelly is currently accepting new patients.

      Experienced in Perlman Syndrome
      Orthopedics
      Experienced in Perlman Syndrome
      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 Perlman Syndrome. His top areas of expertise are Scoliosis, Knock Knees, Clubfoot, Caudal Regression Syndrome, and Hip Replacement. Dr. Frino is currently accepting new patients.

      Advanced in Perlman Syndrome
      Advanced in Perlman Syndrome

      Ara Health Specialists PA

      21 Hospital Dr, 
      Asheville, NC 
      Languages Spoken:
      English
      Accepting New Patients

      Marianne Ballisty is a Radiologist in Asheville, North Carolina. Dr. Ballisty is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Visceromegaly, Non-Alcoholic Fatty Liver Disease, Pleurisy, and Pleural Effusion. Dr. Ballisty is currently accepting new patients.

      Jad R. Jabbour
      Experienced in Perlman Syndrome
      Otolaryngology
      Experienced in Perlman Syndrome
      Otolaryngology

      Charlotte Eye, Ear, Nose & Throat Associates, P.A. - SouthPark

      6035 Fairview Road, 
      Charlotte, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Jad Jabbour is an Otolaryngologist in Charlotte, North Carolina. Dr. Jabbour is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Laryngomalacia, Enlarged Adenoids, Choanal Atresia, and Otitis. Dr. Jabbour is currently accepting new patients.

      Experienced in Perlman Syndrome
      Pediatric Radiology | Radiology
      Experienced in Perlman Syndrome
      Pediatric Radiology | Radiology

      Wake Forest University Health Sciences

      Medical Ctr Blvd, 
      Winston Salem, NC 
      Languages Spoken:
      English

      James Crowe is a Pediatric Radiologist and a Radiologist in Winston Salem, North Carolina. Dr. Crowe is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Scoliosis, Short Stature (Growth Disorders), Gas Bloat Syndrome, and Bronchogenic Cyst.

      Experienced in Perlman Syndrome
      Pediatric Radiology | Radiology
      Experienced in Perlman Syndrome
      Pediatric Radiology | Radiology

      Raleigh Radiology LLC

      3200 Blue Ridge Rd, Suite 100, 
      Raleigh, NC 
      Languages Spoken:
      English
      Accepting New Patients

      Benjamin Smith is a Pediatric Radiologist and a Radiologist in Raleigh, North Carolina. Dr. Smith is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Tracheobronchopathia Osteoplastica, Pectus Excavatum, Short Stature (Growth Disorders), and Familial Short Stature (FSS). Dr. Smith is currently accepting new patients.

      Experienced in Perlman Syndrome
      Nurse Practitioner
      Experienced in Perlman Syndrome
      Nurse Practitioner
      200 Arthur Dr, 
      Thomasville, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Melanie Huffman is a Nurse Practitioner in Thomasville, North Carolina. Ms. Huffman is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Vascular Birthmark, Hemi 3 Syndrome, Cantu Syndrome, and Marshall-Smith Syndrome. Ms. Huffman is currently accepting new patients.

      Experienced in Perlman Syndrome
      Pediatric Endocrinology | Endocrinology
      Experienced in Perlman Syndrome
      Pediatric Endocrinology | Endocrinology
      2100 Stantonsburg Rd, 
      Greenville, NC 
      Languages Spoken:
      English
      Accepting New Patients

      Mansa Krishnamurthy is a Pediatric Endocrinologist and an Endocrinologist in Greenville, North Carolina. Dr. Krishnamurthy is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Low Blood Sugar, Sotos Syndrome, Congenital Hyperinsulinism, and Newborn Low Blood Sugar. Dr. Krishnamurthy is currently accepting new patients.

      Experienced in Perlman Syndrome
      Radiology | Pediatric Radiology
      Experienced in Perlman Syndrome
      Radiology | Pediatric Radiology

      Charlotte Radiology

      700 E. Morehead St., Suite 300, 
      Charlotte, NC 
      Experience:
      27+ years
      Languages Spoken:
      English
      Accepting New Patients

      Adrienne Bean is a Radiologist and a Pediatric Radiologist in Charlotte, North Carolina. Dr. Bean has been practicing medicine for over 27 years and is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Tracheobronchopathia Osteoplastica, Visceromegaly, Non-Alcoholic Fatty Liver Disease, and Pleurisy. Dr. Bean is currently accepting new patients.

      Experienced in Perlman Syndrome
      Pediatric Otolaryngology | Otolaryngology
      Experienced in Perlman Syndrome
      Pediatric Otolaryngology | Otolaryngology

      Charlotte Eye Ear Nose And Throat Associates PA

      6035 Fairview Rd, 
      Charlotte, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Darrin Bann is a Pediatric Otolaryngologist and an Otolaryngologist in Charlotte, North Carolina. Dr. Bann is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Laryngomalacia, Aural Polyps, Otitis, Parathyroidectomy, and Thyroidectomy. Dr. Bann is currently accepting new patients.

      Experienced in Perlman Syndrome
      Medical Genetics
      Experienced in Perlman Syndrome
      Medical Genetics

      University Of North Carolina At Chapel Hill

      101 Manning Dr, 
      Chapel Hill, NC 
      Experience:
      9+ years
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Michael Adams is a Medical Genetics provider in Chapel Hill, North Carolina. Dr. Adams has been practicing medicine for over 9 years and is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Fabry Disease, and Beckwith-Wiedemann Syndrome. Dr. Adams is currently accepting new patients.

      Experienced in Perlman Syndrome
      Nurse Practitioner
      Experienced in Perlman Syndrome
      Nurse Practitioner
      2406 Blue Ridge Rd, Suite 100, 
      Raleigh, NC 
      Languages Spoken:
      English
      Accepting New Patients

      Kathleen Clasen is a Nurse Practitioner in Raleigh, North Carolina. Ms. Clasen is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Marshall-Smith Syndrome, Megalencephaly-Capillary Malformation Syndrome, Cantu Syndrome, and Simpson-Golabi-Behmel Syndrome. Ms. Clasen is currently accepting new patients.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      6727 Parker Farm Drive, 
      Wilmington, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Pamela Taylor is a Pediatrics provider in Wilmington, North Carolina. Dr. Taylor is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Developmental Dysphasia Familial, Marshall-Smith Syndrome, Perlman Syndrome, and Cantu Syndrome. Dr. Taylor is currently accepting new patients.

      Experienced in Perlman Syndrome
      Medical Genetics | Pediatrics
      Experienced in Perlman Syndrome
      Medical Genetics | Pediatrics

      The Moses H Cone Memorial Hospital Operating Corporation

      1200 N Elm St, 
      Greensboro, NC 
      Languages Spoken:
      English
      Offers Telehealth

      Chad Haldeman is a Medical Genetics specialist and a Pediatrics provider in Greensboro, North Carolina. Dr. Haldeman is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Fabry Disease, Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, and Danon Disease.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      403 Fairview St, 
      Clinton, NC 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      William Carr is a Pediatrics provider in Clinton, North Carolina. Dr. Carr is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Delayed Growth, Obesity in Children, Microcephaly, and Autism Spectrum Disorder. Dr. Carr is currently accepting new patients.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      Triad Pediatrics 2754 Nc-68, Suite 111, 
      High Point, NC 
      Languages Spoken:
      English, Spanish
      Accepting New Patients
      Offers Telehealth

      Mark Cummings is a Pediatrics provider in High Point, North Carolina. Dr. Cummings is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Developmental Dysphasia Familial, Croup, Autism Spectrum Disorder, and Obesity in Children. Dr. Cummings is currently accepting new patients.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      2304 Delaney Rd, 
      Wilmington, NC 
      Languages Spoken:
      English
      Accepting New Patients

      Svetlana Staub is a Pediatrics provider in Wilmington, North Carolina. Dr. Staub is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Oppositional Defiant Disorder (ODD), Delayed Growth, Autism Spectrum Disorder, and Asthma in Children. Dr. Staub is currently accepting new patients.

      Showing 1-20 of 27

      Last Updated: 10/30/2025

      What is the definition of Perlman Syndrome?

      Perlman syndrome causes overgrowth in infancy and affects many different parts of the body. Babies with Perlman syndrome are bigger than most babies and have large heads, kidneys, and livers. In addition, they may have low muscle tone, distinctive facial features, and developmental delay. Over time, people with Perlman syndrome have an increased chance to develop Wilms tumor, a rare kidney cancer that primarily affects children. Perlman syndrome is caused by genetic changes (variants) in the DIS3L2 gene. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical exam, and may be confirmed by the results of genetic testing.

      When should I see a Perlman Syndrome doctor in North Carolina, US?

      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 Perlman Syndrome doctor in North Carolina, US?

      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 Perlman Syndrome doctors in North Carolina, US?

      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 Perlman Syndrome doctors in North Carolina, US?

      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 Perlman Syndrome doctor in North Carolina, US?

      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 Perlman Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Perlman 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 Perlman Syndrome doctor in North Carolina, US?

      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 Perlman 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 Perlman 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 Perlman Syndrome doctors in North Carolina, US?

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

      Look for the filter feature on the left-side of the Perlman 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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