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    Last Updated: 02/22/2026

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    MediFind found 109 doctor with experience in Perlman Syndrome near Pennsylvania, US. Of these, 101 are Experienced and 8 are Advanced.

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    LocationClose
    109 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 
      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 
      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 
      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 
      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 
      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 
      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 
      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 
      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 
      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 
      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.

      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, Simpson-Golabi-Behmel Syndrome, Cantu Syndrome, Vertebroplasty, and Bone Graft.

      Advanced in Perlman Syndrome
      Pediatric Radiology
      Advanced in Perlman Syndrome
      Pediatric Radiology

      Office

      3401 Civic Center Blvd, 
      Philadelphia, PA 
      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.

      Jacob A. Troutman
      Experienced in Perlman Syndrome
      Hematology | Oncology
      Experienced in Perlman Syndrome
      Hematology | Oncology

      LVPG Pediatric Hematology Oncology-Cedar Crest

      1210 S Cedar Crest Blvd., Suite 1000, 
      Allentown, PA 
      Experience:
      17+ years
      Languages Spoken:
      English

      Philosophy of care | I believe children are a unique population of patients that require a physician dedicated to their well-being. I believe they are vulnerable and often unable to speak up for themselves. I believe that each child and family should be treated as if they are my own relation. | Why I entered medicine | I entered medicine for the satisfaction of being able to help and offer hope to those who are ill. I chose pediatric hematology oncology because these children have a serious illness and their parents are at the lowest point of their lives, and I can provide them with hope and compassion. | Community involvement | I volunteer at Camp Dost, a camp for children with cancer. Since 2003 I have helped there, and love seeing how this experience helps kids who are dealing with cancer enjoy time just being kids. | Personal interests | I enjoy many types of sports, but specifically like basketball, baseball, football, and golf. I also like to go canoeing and doing physical fitness activities. Dr. Troutman is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Acute Lymphoblastic Leukemia (ALL), Sickle Cell Disease, Thalassemia, and Hemoglobin SC Disease.

      Andrea C. Amoia
      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome

      Hatboro Pediatrics PC

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

      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. Dr. Amoia is currently accepting new patients.

      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.

      Srinivas N. Halthore
      Experienced in Perlman Syndrome
      Pediatric Neurology
      Experienced in Perlman Syndrome
      Pediatric Neurology

      LVPG Pediatric Neurology-1210 Cedar Crest

      1210 S Cedar Crest Blvd, Suite 2400, 
      Allentown, PA 
      Languages Spoken:
      English

      Philosophy of care | I make myself available as a doctor. | Why I entered medicine | Health care has always been my passion. | Personal interests | My No. 1 interest is medicine. Dr. Halthore is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Shaken Baby Syndrome, Zika Virus Disease, Microcephaly with Spastic Quadriplegia, and Microcephaly.

      Andrea L. Goldsmith
      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome

      LVPG Pediatrics-Pond Road

      1611 Pond Road, Suite 400, 
      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 Hemi 3 Syndrome, Simpson-Golabi-Behmel Syndrome, Perlman Syndrome, and Marshall-Smith Syndrome.

      Christopher P. Raab
      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome

      LVPG Down Syndrome Medical Clinic

      6900 Hamilton Blvd, 
      Trexlertown, PA 
      Languages Spoken:
      English

      "Philosophy of care | To provide my best care for children and families, regardless of who they are, where they are from or what is going on in their lives. I believe every kid in this world deserves access to the best possible care. I have spent the last 16 years practicing inpatient and outpatient complex care pediatrics locally as well as developing global health programs so other countries can improve their quality and access to care. | Why I entered medicine | I wanted to be a doctor from an early age; one of my aunts had surgery and then we watched the same surgery in school. I saw medicine as a challenging career that allowed me to work closely with families. I tell students I was drawn to pediatrics because I loved the range of diseases and working with children, but really, I am just a big kid myself, so it seems fitting to work with my ""peers."" | Community involvement | I have always been very active in my community. I have been a Cub scoutmaster and a church elder and coached Little League and travel baseball more than a decade. I truly believe part of caring for a community is also participating in that community. I have tried to be as involved as my job would allow. | Personal interests | I very much enjoy sports and have three children playing sports in college. I will stop and watch any sporting event anywhere no matter the age of the participants. I also spend free time on woodworking or taking hikes and walks.". Dr. Raab is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Autism Spectrum Disorder, Delayed Growth, Microcephaly, and Vascular Birthmark.

      Chulhyun Ahn
      Advanced in Perlman Syndrome
      Advanced in Perlman Syndrome

      Geisinger Medical Center - Physical Medicine And Rehabilitation

      100 North Academy Avenue, 
      Danville, PA 
      Languages Spoken:
      English, Korean
      Accepting New Patients

      Dr. Ahn is a board-certified specialist in physical medicine and rehabilitation. His clinical interests include musculoskeletal medicine and performing nerve conduction studies (EMGs). He earned his medical degree from the Seoul National University College of Medicine and completed his residency at the Hospital of the University of Pennsylvania. Dr. Ahn is certified by the American Board of Physical Medicine and Rehabilitation. He speaks English and Korean.|Outside of work, Dr. Ahn, who is a native of Seoul, enjoys eating pho. His favorite book is An Inquiry into Meaning and Truth. 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 Marshall-Smith Syndrome.

      Experienced in Perlman Syndrome
      Experienced in Perlman Syndrome

      Children's Hospital Of Philadelphia

      3401 Civic Center Blvd, 
      Philadelphia, PA 
      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.

      Showing 1-20 of 109

      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 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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