The 20 Best Perlman Syndrome Doctors Near Me in Philadelphia, PA

Find the Top Perlman Syndrome Experts and Specialists

The 20 Best Perlman Syndrome Doctors near Philadelphia, PA

Last Updated: 02/22/2026

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MediFind found 77 doctor with experience in Perlman Syndrome near Philadelphia, PA. Of these, 72 are Experienced and 5 are Advanced.

Location
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77 providers found
    Sarah C. Contrucci
    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Familial Short Stature (FSS).

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

    St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Dr. Webb is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Choroid Plexus Cyst, Familial Porencephaly, Arachnoid Cysts, and Aseptic and Alopecic Nodules of Scalp (AANS).

    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Dr. Martin is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Tracheobronchopathia Osteoplastica, Congenital Unilateral Pulmonary Hypoplasia, Scoliosis, and Short Stature (Growth Disorders).

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    Jason C. White
    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    St. Christopher's Pediatric Associates Oncology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Dr. White is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Acute Lymphoblastic Leukemia (ALL), Langerhans Cell Histiocytosis, Optic Glioma, and Febrile Neutropenia.

    Gregory E. Halligan
    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    St. Christopher's Pediatric Associates Oncology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Dr. Halligan is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Acute Lymphoblastic Leukemia (ALL), Rhabdomyosarcoma, Neuroblastoma, and Ewing Sarcoma.

    Jacquelyne Wilson
    Experienced in Perlman Syndrome
    Nurse Practitioner
    Experienced in Perlman Syndrome
    Nurse Practitioner

    St. Christopher's Pediatric Associates Oncology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Ms. Wilson is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Megalencephaly-Capillary Malformation Syndrome, Cantu Syndrome, Simpson-Golabi-Behmel Syndrome, and Marshall-Smith Syndrome.

    David A. Zwillenberg
    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    St. Christopher's Pediatric Associates Otolaryngology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Dr. Zwillenberg is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Actinomycosis, Enlarged Adenoids, Laryngomalacia, Hearing Loss, and Adenoidectomy.

    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

    Experienced in Perlman Syndrome
    Orthopedics | Hand Surgery
    Experienced in Perlman Syndrome
    Orthopedics | Hand Surgery

    St. Christopher's Hospital For Children

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Dr. Kozin is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Proximal Symphalangism, Syndactyly Type 1, Syndactyly Type 3, Osteotomy, and Bone Graft.

    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    St. Christopher's Hospital For Children

    160 E Erie Ave, 
    Philadelphia, PA 
     (4.3 miles away)
    Languages Spoken:
    English

    . Dr. Vickers is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Scarlet Fever, Autism Spectrum Disorder, Asthma in Children, and Delayed Growth.

    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 Radiology
    Advanced in Perlman Syndrome
    Pediatric Radiology

    Office

    3401 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 miles away)
    Experience:
    18+ years
    Languages Spoken:
    English

    Jie Nguyen is a Pediatric Radiologist in Philadelphia, Pennsylvania. Dr. Nguyen has been practicing medicine for over 18 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.

    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    Children's Hospital Of Philadelphia

    3401 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 miles away)
    Experience:
    10+ years
    Languages Spoken:
    English

    Minh-huy Huynh is a Radiologist in Philadelphia, Pennsylvania. Dr. Huynh has been practicing medicine for over 10 years and is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Hepatic Cystic Hamartoma, Simpson-Golabi-Behmel Syndrome, Marshall-Smith Syndrome, Hemi 3 Syndrome, and Liver Embolization.

    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    Children's Hospital Of Philadelphia

    3401 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 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, PIK3CA-Related Overgrowth Spectrum, and Perlman Syndrome.

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

    Office

    3401 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 miles away)
    Languages Spoken:
    English

    Richard Markowitz is a Pediatric 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, PIK3CA-Related Overgrowth Spectrum, and Cantu Syndrome.

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

    Office

    3401 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 miles away)
    Languages Spoken:
    English

    Richard Bellah is a Pediatric Radiologist in Philadelphia, Pennsylvania. Dr. Bellah is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Perlman Syndrome, Megalencephaly-Capillary Malformation Syndrome, Hemi 3 Syndrome, and Simpson-Golabi-Behmel Syndrome.

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

    Office

    3401 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 miles away)
    Languages Spoken:
    English

    Ammie White is a Pediatric Radiologist in Philadelphia, Pennsylvania. Dr. White is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Scoliosis, Absence of Tibia, Dextrocardia, and Sprengel Deformity.

    Experienced in Perlman Syndrome
    Pediatric Endocrinology
    Experienced in Perlman Syndrome
    Pediatric Endocrinology

    Office

    3401 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 miles away)
    Languages Spoken:
    English

    Katherine Lord is a Pediatric Endocrinologist in Philadelphia, Pennsylvania. Dr. Lord is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Congenital Hyperinsulinism, Low Blood Sugar, Newborn Low Blood Sugar, Sotos Syndrome, and Pancreatectomy.

    Experienced in Perlman Syndrome
    Experienced in Perlman Syndrome

    Children's Hospital Of Philadelphia

    3401 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 miles away)
    Languages Spoken:
    English

    Levy Onyango is a Radiologist in Philadelphia, Pennsylvania. Dr. Onyango is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Scoliosis, Congenital Femoral Deficiency, Nasal Flaring, and PIK3CA-Related Overgrowth Spectrum.

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

    Office

    3401 Civic Center Blvd, 
    Philadelphia, PA 
     (1.6 miles away)
    Languages Spoken:
    English

    Susan Back is a Pediatric Radiologist in Philadelphia, Pennsylvania. Dr. Back is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Arthrogryposis Multiplex Congenita, Scoliosis, Collins Pope Syndrome, Lithotripsy, and Ureteroscopy.

    Showing 1-20 of 77

    Last Updated: 02/22/2026

    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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