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    Last Updated: 10/30/2025

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    MediFind found 103 doctor with experience in Perlman Syndrome near Pennsylvania, US. Of these, 93 are Experienced and 10 are Advanced.

    Location
    LocationClose
    103 providers found
      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      401 N 17th St, Suite 203, 
      Allentown, PA 
      Languages Spoken:
      English

      Andrea Goldsmith is a Pediatrics provider in Allentown, Pennsylvania. Dr. Goldsmith is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Marshall-Smith Syndrome, Perlman Syndrome, Simpson-Golabi-Behmel Syndrome, and Hemi 3 Syndrome.

      Sara L. Partington
      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome

      Penn Heart And Vascular Center

      3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Sara Partington is a Cardiologist in Philadelphia, Pennsylvania. Dr. Partington is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Congenital Heart Disease (CHD), Tetralogy of Fallot, Pediatric Myocarditis, Tricuspid Atresia, and Thrombectomy. Dr. Partington is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome

      Hatboro Pediatrics PC

      483 East County Line Rd, 
      Warminster, PA 
      Languages Spoken:
      English

      Andrea Amoia is a Pediatrics provider in Warminster, Pennsylvania. Dr. Amoia is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Obesity in Children, Developmental Dysphasia Familial, Autism Spectrum Disorder, and Herpangina.

      Learn about our expert tiers
      Advanced in Perlman Syndrome
      Internal Medicine
      Advanced in Perlman Syndrome
      Internal Medicine

      Penn Primary Care Havertown

      2510 W. Township Line Rd, 
      Havertown, PA 
      Languages Spoken:
      English

      Stephen Humbert is a primary care provider, practicing in Internal Medicine in Havertown, Pennsylvania. Dr. Humbert is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Megalencephaly-Capillary Malformation Syndrome, Cantu Syndrome, Simpson-Golabi-Behmel Syndrome, Bone Graft, and Vertebroplasty.

      Advanced in Perlman Syndrome
      Pediatric Hematology Oncology
      Advanced in Perlman Syndrome
      Pediatric Hematology Oncology
      3401 Civic Center Blvd, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Jacquelyn Crane is a Pediatric Hematologist Oncology provider in Philadelphia, Pennsylvania. Dr. Crane is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Rhabdomyosarcoma, Marshall-Smith Syndrome, Megalencephaly-Capillary Malformation Syndrome, and Simpson-Golabi-Behmel Syndrome.

      Advanced in Perlman Syndrome
      Pediatric Radiology | Radiology
      Advanced in Perlman Syndrome
      Pediatric Radiology | Radiology
      500 University Dr, 
      Hershey, PA 
      Languages Spoken:
      English

      Michael Moore is a Pediatric Radiologist and a Radiologist in Hershey, Pennsylvania. Dr. Moore is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Scoliosis, Hypochondroplasia, and Septoplasty.

      Advanced in Perlman Syndrome
      Medical Genetics | Pediatrics
      Advanced in Perlman Syndrome
      Medical Genetics | Pediatrics
      500 University Dr, Mc A410, 
      Hershey, PA 
      Languages Spoken:
      English

      Patricia Gordon is a Medical Genetics specialist and a Pediatrics provider in Hershey, Pennsylvania. Dr. Gordon is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Phenylketonuria (PKU), Proteus Syndrome, Cantu Syndrome, and Marshall-Smith Syndrome.

      Advanced in Perlman Syndrome
      Orthopedics | Pediatrics
      Advanced in Perlman Syndrome
      Orthopedics | Pediatrics
      34th & Civic Center Blvd, Children's Hospital Of Philadelphia, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Richard Davidson is an Orthopedics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Davidson is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Clubfoot, Macrodactyly of the Foot, Claw Foot, and Perlman Syndrome.

      Advanced in Perlman Syndrome
      Pediatric Hematology Oncology
      Advanced in Perlman Syndrome
      Pediatric Hematology Oncology

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Denise Adams is a Pediatric Hematologist Oncology provider in Philadelphia, Pennsylvania. Dr. Adams is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Bannayan-Riley-Ruvalcaba Syndrome, Vascular Birthmark, Congenital Athymia, Perlman Syndrome, and Tissue Biopsy.

      Advanced in Perlman Syndrome
      Radiology | Pediatrics | Pediatric Radiology
      Advanced in Perlman Syndrome
      Radiology | Pediatrics | Pediatric Radiology

      Radiology Associates Of Children's Hospital

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
      Experience:
      17+ years
      Languages Spoken:
      English

      Jie Nguyen is a Radiologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Nguyen has been practicing medicine for over 17 years and is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Osteochondritis Dissecans, Osteomyelitis in Children, Collins Pope Syndrome, Endoscopy, and Bone Graft.

      Advanced in Perlman Syndrome
      Pediatric Orthopedics | Orthopedics
      Advanced in Perlman Syndrome
      Pediatric Orthopedics | Orthopedics
      3401 Civic Center Blvd, Division Of Orthopaedic Surgery, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Christopher Makarewich is a Pediatric Orthopedics specialist and an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Makarewich is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Knock Knees, Osteogenesis Imperfecta, Achondroplasia, Osteotomy, and Tenotomy.

      Advanced in Perlman Syndrome
      Advanced in Perlman Syndrome

      Geisinger Clinic

      100 N Academy Ave, 
      Danville, PA 
      Languages Spoken:
      English

      Chulhyun Ahn is a Physiatrist in Danville, Pennsylvania. Dr. Ahn is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Sciatica, Distal Median Nerve Dysfunction, Scoliosis, and Perlman Syndrome.

      Advanced in Perlman Syndrome
      Plastic Surgery
      Advanced in Perlman Syndrome
      Plastic Surgery
      3400 Spruce Street, 4 Silverstein, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Jesse Taylor is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Taylor is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Craniosynostosis, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, Osteotomy, and Endoscopy.

      Ozgur Dede
      Experienced in Perlman Syndrome
      Pediatric Orthopedics | Orthopedics
      Experienced in Perlman Syndrome
      Pediatric Orthopedics | Orthopedics

      Pediatric Orthopaedics In Lawrenceville

      4401 Penn Avenue, 
      Pittsburgh, PA 
      Languages Spoken:
      English, Turkish
      Accepting New Patients

      Ozgur Dede, MD, is a double fellowship trained, board-certified pediatric orthopaedic and spine surgeon at UPMC Children’s Hospital of Pittsburgh. Dr. Dede earned his medical degree from Hacettepe University in Ankara, Turkey where he also completed his orthopaedic surgery residency training. He pursued subspecialty training in pediatric orthopaedic surgery and spine surgery in the United States and completed 4 years of surgical fellowship training at Cincinnati Children's Hospital Medical Center, the University of Pittsburgh School of Medicine, Alfred I duPont Hospital for Children, and the UCSF Spine Center. His clinical interests include treatment of spinal problems in children including scoliosis, spondylolysis, spondylolisthesis, cervical instability, disc herniation and spinal stenosis. He also treats neuromuscular conditions including cerebral palsy and spina bifida, arthrogryposis and other syndromic afflictions.  His research interests include the non-operative and operative management of all types of pediatric scoliosis as well as management of hip and lower extremity deformities in children with spasticity. View Dr. Dede’s full list of publications from PubMed. Dr. Dede is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Scoliosis, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Osteotomy, and Spinal Fusion.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome

      Radiology Associates Of Children's Hospital

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
      Experience:
      9+ years
      Languages Spoken:
      English

      Minh-huy Huynh is a Radiologist in Philadelphia, Pennsylvania. Dr. Huynh 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 Cantu Syndrome, Simpson-Golabi-Behmel Syndrome, Hemi 3 Syndrome, Megalencephaly-Capillary Malformation Syndrome, and Liver Embolization.

      Experienced in Perlman Syndrome
      Medical Genetics | Addiction Medicine | Pediatrics
      Experienced in Perlman Syndrome
      Medical Genetics | Addiction Medicine | Pediatrics
      243 N Galen Hall Rd Fl 9nw, 
      Wernersville, PA 
      Languages Spoken:
      English

      Steven Klein is a Medical Genetics specialist and an Addiction Medicine provider in Wernersville, Pennsylvania. Dr. Klein is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Megalencephaly-Capillary Malformation Syndrome, Proteus-Like Syndrome, Marshall-Smith Syndrome, and Proteus Syndrome.

      Experienced in Perlman Syndrome
      Pediatric Hematology Oncology
      Experienced in Perlman Syndrome
      Pediatric Hematology Oncology
      3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Hem/onc, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Garrett Brodeur is a Pediatric Hematologist Oncology provider in Philadelphia, Pennsylvania. Dr. Brodeur is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Neuroblastoma, Embryonal Tumor with Multilayered Rosettes, Bannayan-Riley-Ruvalcaba Syndrome, and Retinoblastoma.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      3401 Civic Center Blvd, Children's Hospital Of Philadelphia, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Bernard Horn is an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Horn is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Clubfoot, Chondrodystrophy, Claw Foot, Osteotomy, and Tenotomy.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      800 Spruce St, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Liya Gendler is a Radiologist in Philadelphia, Pennsylvania. Dr. Gendler is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Scoliosis, Osteochondritis Dissecans, Hemi 3 Syndrome, and Perlman Syndrome.

      Experienced in Perlman Syndrome
      Physician Assistant
      Experienced in Perlman Syndrome
      Physician Assistant
      1645 W 8th St, 
      Erie, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Christine Betancourt is a Physician Assistant in Erie, Pennsylvania. Ms. Betancourt is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Megalencephaly-Capillary Malformation Syndrome, Marshall-Smith Syndrome, Hemi 3 Syndrome, and Perlman Syndrome. Ms. Betancourt is currently accepting new patients.

      Showing 1-20 of 103

      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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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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