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    Last Updated: 10/30/2025

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    MediFind found 82 doctor with experience in Perlman Syndrome near Philadelphia, PA. Of these, 75 are Experienced and 7 are Advanced.

    Location
    LocationClose
    82 providers found
      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 
       (1.5 miles away)
      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.

      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 
       (1.5 miles away)
      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.

      What does Elite, Distinguished, Advanced, Experienced mean?
      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 
       (1.5 miles away)
      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.

      Learn about our expert tiers
      Advanced in Perlman Syndrome
      Plastic Surgery
      Advanced in Perlman Syndrome
      Plastic Surgery
      3400 Spruce Street, 4 Silverstein, 
      Philadelphia, PA 
       (1.5 miles away)
      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.

      Advanced in Perlman Syndrome
      Orthopedics | Pediatrics
      Advanced in Perlman Syndrome
      Orthopedics | Pediatrics
      34th & Civic Center Blvd, Children's Hospital Of Philadelphia, 
      Philadelphia, PA 
       (1.5 miles away)
      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
      3401 Civic Center Blvd, 
      Philadelphia, PA 
       (1.6 miles away)
      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 Orthopedics | Orthopedics
      Advanced in Perlman Syndrome
      Pediatric Orthopedics | Orthopedics
      3401 Civic Center Blvd, Division Of Orthopaedic Surgery, 
      Philadelphia, PA 
       (1.6 miles away)
      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.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      833 Chestnut Street East, Suite 300, 
      Philadelphia, PA 
       (0.4 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Meghan Harrison is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Harrison is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Autism Spectrum Disorder, Developmental Dysphasia Familial, Cantu Syndrome, and Simpson-Golabi-Behmel Syndrome. Dr. Harrison is currently accepting new patients.

      Experienced in Perlman Syndrome
      Pediatrics | General Practice
      Experienced in Perlman Syndrome
      Pediatrics | General Practice
      833 Chestnut Street East, Suite 300, 
      Philadelphia, PA 
       (0.4 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Brittany Perry is a primary care provider, a Pediatrics specialist and a General Practice provider in Philadelphia, Pennsylvania. Dr. Perry is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Autism Spectrum Disorder, Cyclic Vomiting Syndrome, Pica, and Spasmus Nutans. Dr. Perry is currently accepting new patients.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      111 S 11th St, Suite 2170, 
      Philadelphia, PA 
       (0.4 miles away)
      Languages Spoken:
      English

      Carissa Jackel is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Jackel is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Autism Spectrum Disorder, Delayed Growth, Developmental Dysphasia Familial, and Cantu Syndrome.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      235 S 8th St, 
      Philadelphia, PA 
       (0.7 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Terrence Ishmael is an Orthopedics provider in Philadelphia, Pennsylvania. Dr. Ishmael is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Scoliosis, Clubfoot, Hereditary Multiple Osteochondromas, Arthrogryposis Multiplex Congenita, and Spinal Fusion. Dr. Ishmael is currently accepting new patients.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome
      800 Spruce St, 
      Philadelphia, PA 
       (0.7 miles away)
      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
      Sleep Medicine | Neurology | Pediatric Neurology
      Experienced in Perlman Syndrome
      Sleep Medicine | Neurology | Pediatric Neurology
      34st And Civic Center, Chop, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Ilya Khaytin is a Sleep Medicine specialist and a Neurologist in Philadelphia, Pennsylvania. Dr. Khaytin is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Obstructive Sleep Apnea, Insomnia, Down Syndrome, and Neural Crest Tumor.

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

      Radiology Associates Of Children's Hospital

      34 Th St And Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Seth Vatsky is an Interventional Radiologist and a Pediatric Radiologist in Philadelphia, Pennsylvania. Dr. Vatsky is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Omphalocele, Congenital Unilateral Pulmonary Hypoplasia, Congenital Athymia, Lithotripsy, and Ureteroscopy.

      Experienced in Perlman Syndrome
      Pediatric Sports Medicine | Sports Medicine
      Experienced in Perlman Syndrome
      Pediatric Sports Medicine | Sports Medicine
      34th St And Civic Center Blvd, Children's Hospital Of Philadelphia, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Brian Vernau is a Pediatric Sports Medicine specialist and a Sports Medicine provider in Philadelphia, Pennsylvania. Dr. Vernau is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Concussion, Cantu Syndrome, Perlman Syndrome, and Marshall-Smith Syndrome.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome

      Radiology Associates Of Children's Hospital

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      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
      Pediatrics | Hematology | Oncology
      Experienced in Perlman Syndrome
      Pediatrics | Hematology | Oncology

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Suzanne Macfarland is a Pediatrics specialist and a Hematologist in Philadelphia, Pennsylvania. Dr. Macfarland is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Neuroblastoma, Familial Adenomatous Polyposis, Hepatoblastoma, Mosaicism, and Tissue Biopsy.

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

      Radiology Associates Of Children's Hospital

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Richard Markowitz is a Pediatric Radiologist and a Radiologist in Philadelphia, Pennsylvania. Dr. Markowitz is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Intussusception in Children, Scoliosis, Perlman Syndrome, and Simpson-Golabi-Behmel Syndrome.

      Experienced in Perlman Syndrome
      Ophthalmology
      Experienced in Perlman Syndrome
      Ophthalmology

      Children's Surgical Associates Ltd

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Brian Forbes is an Ophthalmologist in Philadelphia, Pennsylvania. Dr. Forbes is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Strabismus, Esotropia, Amblyopia, and Acrodysostosis.

      Experienced in Perlman Syndrome
      Plastic Surgery | Oral and Maxillofacial Surgery
      Experienced in Perlman Syndrome
      Plastic Surgery | Oral and Maxillofacial Surgery

      Children's Surgical Associates Ltd

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Joseph Napoli is a Plastic Surgeon and an Oral and Maxillofacial Surgeon in Philadelphia, Pennsylvania. Dr. Napoli is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Cleft Lip and Palate, Autosomal Cleft Palate, Velopharyngeal Insufficiency, and Orofaciodigital Syndrome 1.

      Showing 1-20 of 82

      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 near Philadelphia, PA?

      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 near Philadelphia, PA?

      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 near Philadelphia, PA?

      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 near Philadelphia, PA?

      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 near Philadelphia, PA?

      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 near Philadelphia, PA?

      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 near Philadelphia, PA?

      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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