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    Last Updated: 10/30/2025

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    MediFind found 28 doctor with experience in Coffin-Siris Syndrome near Pennsylvania, US. Of these, 19 are Experienced, 7 are Advanced, 1 are Distinguished and 1 are Elite.

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    28 providers found
      Elite in Coffin-Siris Syndrome
      Pediatrics | Medical Genetics
      Elite in Coffin-Siris Syndrome
      Pediatrics | Medical Genetics
      34th St. & Civic Center Blvd, The Children's Hospital Of Philadelphia, Room 9nw55, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Elizabeth Bhoj is a Pediatrics specialist and a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Bhoj is rated as an Elite provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Hardikar Syndrome, Coffin-Siris Syndrome, Acheiropody, Hypotonia, and Myringotomy.

      Distinguished in Coffin-Siris Syndrome
      Medical Genetics | Pediatrics
      Distinguished in Coffin-Siris Syndrome
      Medical Genetics | Pediatrics

      Childrens Health Care Associates Inc

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

      Elaine Zackai is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Zackai is rated as a Distinguished provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Yuli Y. Kim
      Experienced in Coffin-Siris Syndrome
      Cardiology
      Experienced in Coffin-Siris Syndrome
      Cardiology

      Penn Heart And Vascular Center

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

      Yuli Kim is a Cardiologist in Philadelphia, Pennsylvania. Dr. Kim is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Congenital Heart Disease (CHD), Tetralogy of Fallot, Bicuspid Aortic Valve, Heart Transplant, and Thrombectomy. Dr. Kim is currently accepting new patients.

      Learn about our expert tiers
      Suneeta Madan
      Advanced in Coffin-Siris Syndrome
      Advanced in Coffin-Siris Syndrome

      Medical Genetics In Lawrenceville

      4401 Penn Avenue, 
      Pittsburgh, PA 
      Languages Spoken:
      English, Hindi

      Suneeta Madan-Khetarpal, MD, is a clinical geneticist and is certified in clinical genetics, clinical cytogenetics, clinical molecular genetics, clinical medical biochemical genetics, and pediatrics by the American Board of Medical Genetics and Genomics and the American Board of Pediatrics respectively. She is also associate professor of pediatrics, ophthalmology, and human genetics at the Graduate School of Public Health at the University of Pittsburgh School of Medicine. Dr. Madan is rated as an Advanced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are 1p36 Deletion Syndrome, Micrognathia, Mosaicism, and Miller Syndrome.

      Khyati V. Kadia
      Advanced in Coffin-Siris Syndrome
      Family Medicine
      Advanced in Coffin-Siris Syndrome
      Family Medicine

      UPMC Primary Care

      501 Howard Avenue, 
      Altoona, PA 
      Languages Spoken:
      English, Gujarati , Hindi
      Offers Telehealth

      Khyati Kadia, MD, specializes in family medicine and is certified by the American Board of Family Medicine. She practices at Altoona Family Physicians and is affiliated with UPMC Altoona. She completed her residency at University of Illinois College of Medicine at Rockford and medical degree at Windsor University School of Medicine. Dr. Kadia is rated as an Advanced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Rommen Mueller Sybert Syndrome, Cornelia De Lange Syndrome, Sjogren-Larsson Syndrome, and Osteoglophonic Dysplasia.

      Advanced in Coffin-Siris Syndrome
      Family Medicine
      Advanced in Coffin-Siris Syndrome
      Family Medicine

      Geisinger Clinic

      531 Mt Pleasant Dr, 
      Scranton, PA 
      Languages Spoken:
      English

      Kenneth Tomczyk is a primary care provider, practicing in Family Medicine in Scranton, Pennsylvania. Dr. Tomczyk is rated as an Advanced provider by MediFind in the treatment of Coffin-Siris Syndrome. His top areas of expertise are Prader-Willi Syndrome, Seckel Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), and Cockayne Syndrome.

      Advanced in Coffin-Siris Syndrome
      Family Medicine
      Advanced in Coffin-Siris Syndrome
      Family Medicine
      1405 Shady Ave, 
      Pittsburgh, PA 
      Languages Spoken:
      English

      Sima Suler is a primary care provider, practicing in Family Medicine in Pittsburgh, Pennsylvania. Dr. Suler is rated as an Advanced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Robinow Syndrome, Mulibrey Nanism, Camptodactyly Syndrome Guadalajara Type 2, and Langer Mesomelic Dysplasia.

      Advanced in Coffin-Siris Syndrome
      Endocrinology
      Advanced in Coffin-Siris Syndrome
      Endocrinology

      Geisinger Clinic

      1000 E Mountain Dr, 
      Wilkes Barre, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Brian Jameson is an Endocrinologist in Wilkes Barre, Pennsylvania. Dr. Jameson is rated as an Advanced provider by MediFind in the treatment of Coffin-Siris Syndrome. His top areas of expertise are Postmenopausal Osteoporosis, Maturity Onset Diabetes of the Young, Osteoporosis, and Type 2 Diabetes (T2D).

      Advanced in Coffin-Siris Syndrome
      Pediatrics | Medical Genetics
      Advanced in Coffin-Siris Syndrome
      Pediatrics | Medical Genetics

      Childrens Health Care Associates Inc

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

      Rebecca Ahrens-Nicklas is a Pediatrics specialist and a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Ahrens-Nicklas is rated as an Advanced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Noonan Syndrome.

      Advanced in Coffin-Siris Syndrome
      Family Medicine | Pediatrics | Internal Medicine
      Advanced in Coffin-Siris Syndrome
      Family Medicine | Pediatrics | Internal Medicine

      The Milton S Hershey Medical Center Physicians Group

      2626 N 3rd St, 
      Harrisburg, PA 
      Languages Spoken:
      English

      Anne Kantner is a primary care provider, practicing in Family Medicine and Internal Medicine in Harrisburg, Pennsylvania. Dr. Kantner is rated as an Advanced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Meier-Gorlin Syndrome, Seckel Syndrome, Camptodactyly Syndrome Guadalajara Type 2, and Russell-Silver Dwarfism.

      Kathleen E. Sweeney
      Experienced in Coffin-Siris Syndrome
      Family Medicine
      Experienced in Coffin-Siris Syndrome
      Family Medicine

      UPMC Primary Care

      501 Howard Avenue, 
      Altoona, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Kathleen Sweeney, DO, specializes in family medicine and is certified in family medicine/omt and family medicine by the American Osteopathic Board of Family Physicians. She practices at Altoona Family Physicians and is affiliated with UPMC Altoona. She completed her residency at UPMC Altoona and medical degree at Philadelphia College of Osteopathic Medicine. Dr. Sweeney is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Coffin-Siris Syndrome, Mulibrey Nanism, Prader-Willi Syndrome, and GEMSS Syndrome.

      Rajvi H. Patel
      Experienced in Coffin-Siris Syndrome
      Family Medicine
      Experienced in Coffin-Siris Syndrome
      Family Medicine

      Hermitage Community Medicine-UPMC

      449 North Hermitage Road, 
      Hermitage, PA 
      Languages Spoken:
      English, Gujarati , Hindi, Spanish
      Offers Telehealth

      Rajvi Patel, MD, specializes in family medicine and is board-certified in family medicine by the American Board of Family Medicine. She practices at Hermitage Community Medicine - UPMC and is affiliated with UPMC Horizon. Dr. Patel completed her medical degree at St Matthew's School of Medicine and residency at Geisinger Medical Center. Dr. Patel is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Osteosclerosis Autosomal Dominant, Maturity Onset Diabetes of the Young, Osteopetrosis, and Familial Hypertension.

      Experienced in Coffin-Siris Syndrome
      Endocrinology
      Experienced in Coffin-Siris Syndrome
      Endocrinology

      Wellspan Medical Group

      292 Saint Charles Way, 
      York, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Alpa Patel is an Endocrinologist in York, Pennsylvania. Dr. Patel is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Thyroid Cancer, Anaplastic Thyroid Cancer, Osteoporosis, and Postmenopausal Osteoporosis.

      Experienced in Coffin-Siris Syndrome
      Family Medicine
      Experienced in Coffin-Siris Syndrome
      Family Medicine

      Penn Family Medicine Southern Chester County

      455 West Woodview Road, Suite 100, 
      West Grove, PA 
      Languages Spoken:
      English

      Stephen Naylor is a primary care provider, practicing in Family Medicine in West Grove, Pennsylvania. Dr. Naylor is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. His top areas of expertise are Eosinophilia-Myalgia Syndrome, Maturity Onset Diabetes of the Young, Hypertension, and Familial Hypertension.

      Experienced in Coffin-Siris Syndrome
      Experienced in Coffin-Siris Syndrome

      Geisinger Clinic

      1800 Mulberry St, 
      Scranton, PA 
      Experience:
      46+ years
      Languages Spoken:
      English

      Gregory Borowski is an Endocrinologist in Scranton, Pennsylvania. Dr. Borowski has been practicing medicine for over 46 years and is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. His top areas of expertise are Type 1 Diabetes (T1D), Type 2 Diabetes (T2D), Diabetic Neuropathy, and Obesity in Children.

      Experienced in Coffin-Siris Syndrome
      Medical Genetics
      Experienced in Coffin-Siris Syndrome
      Medical Genetics
      333 Cottman Ave, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Tingwei Guo is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Guo is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. His top areas of expertise are Immune Defect due to Absence of Thymus, DiGeorge Syndrome, Mosaic Monosomy 22, and Coffin-Siris Syndrome.

      Experienced in Coffin-Siris Syndrome
      Family Medicine
      Experienced in Coffin-Siris Syndrome
      Family Medicine

      Family Practice Center PC

      300 Maytown Rd, 
      Elizabethtown, PA 
      Languages Spoken:
      English

      Michael Leser is a primary care provider, practicing in Family Medicine in Elizabethtown, Pennsylvania. Dr. Leser is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. His top areas of expertise are Dementia, Alzheimer's Disease, Hypertensive Heart Disease, and Supranuclear Ophthalmoplegia.

      Experienced in Coffin-Siris Syndrome
      Pediatric Cardiology | Pediatrics | Cardiology
      Experienced in Coffin-Siris Syndrome
      Pediatric Cardiology | Pediatrics | Cardiology

      University Of Pittsburgh Physicians

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

      Francis Mccaffrey is a Pediatric Cardiologist and a Pediatrics provider in Pittsburgh, Pennsylvania. Dr. Mccaffrey is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. His top areas of expertise are Pena-Shokeir Syndrome Type 2, Rapadilino Syndrome, Cornelia De Lange Syndrome, and Dubowitz Syndrome. Dr. Mccaffrey is currently accepting new patients.

      Experienced in Coffin-Siris Syndrome
      Family Medicine
      Experienced in Coffin-Siris Syndrome
      Family Medicine

      St Vincent Medical Education And Research Institute Inc

      130 N Main St, Union City Family Practice, 
      Union City, PA 
      Experience:
      17+ years
      Languages Spoken:
      English

      David Steves is a primary care provider, practicing in Family Medicine in Union City, Pennsylvania. Dr. Steves has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. His top areas of expertise are Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, Hypertension, and Glucocorticoid-Remediable Aldosteronism.

      Experienced in Coffin-Siris Syndrome
      Experienced in Coffin-Siris Syndrome

      Access Telecare PLLC

      1 Guthrie Sq, 
      Sayre, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Chizoba Umeh is a Neurologist in Sayre, Pennsylvania. Dr. Umeh is rated as an Experienced provider by MediFind in the treatment of Coffin-Siris Syndrome. Her top areas of expertise are Movement Disorders, Parkinson's Disease, Essential Tremor, and Drug Induced Dyskinesia. Dr. Umeh is currently accepting new patients.

      Showing 1-20 of 28

      Last Updated: 10/30/2025

      What is the definition of Coffin-Siris Syndrome?

      Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.

      When should I see a Coffin-Siris 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 Coffin-Siris 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 Coffin-Siris 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 Coffin-Siris 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 Coffin-Siris 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 Coffin-Siris Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Coffin-Siris 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 Coffin-Siris 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 Coffin-Siris 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 Coffin-Siris 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 Coffin-Siris Syndrome doctors in Pennsylvania, US?

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

      Look for the filter feature on the left-side of the Coffin-Siris 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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