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    Last Updated: 10/30/2025

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    MediFind found 49 doctor with experience in Distal 18q Deletion Syndrome near Pennsylvania, US. Of these, 42 are Experienced and 7 are Advanced.

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    LocationClose
    49 providers found
      Nicholas A. Sala
      Advanced in Distal 18q Deletion Syndrome
      Ophthalmology
      Advanced in Distal 18q Deletion Syndrome
      Ophthalmology

      Pediatric Ophthalmology Of Erie, Inc

      128 West 12th Street, Suite 301, 
      Erie, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Nicholas Sala is an Ophthalmologist in Erie, Pennsylvania. Dr. Sala is rated as an Advanced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Strabismus, Esotropia, Amblyopia, and Chalazion.

      Advanced in Distal 18q Deletion Syndrome
      Medical Genetics | Pediatrics
      Advanced in Distal 18q Deletion 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 an Advanced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Advanced in Distal 18q Deletion Syndrome
      Advanced in Distal 18q Deletion Syndrome

      Good Shepherd Rehabilitation Hospital

      850 S 5th St, 
      Allentown, PA 
      Languages Spoken:
      English

      James Daley is a Physiatrist in Allentown, Pennsylvania. Dr. Daley is rated as an Advanced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are 15q11.2 Microdeletion, Jacobsen Syndrome, Distal 18q Deletion Syndrome, and Stroke.

      Learn about our expert tiers
      Advanced in Distal 18q Deletion Syndrome
      Advanced in Distal 18q Deletion Syndrome
      1244 Ft Washington Ave, Suite J, 
      Ft Washinton, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Stephen Lewis is a Neurologist in Ft Washinton, Pennsylvania. Dr. Lewis is rated as an Advanced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Progressive Myoclonic Epilepsy, Unverricht-Lundborg Syndrome, Lafora Disease, and Dravet Syndrome.

      Advanced in Distal 18q Deletion Syndrome
      Pediatrics | Neurology
      Advanced in Distal 18q Deletion Syndrome
      Pediatrics | Neurology
      3500 Civic Center Blvd, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Madeline Chadehumbe is a Pediatrics specialist and a Neurologist in Philadelphia, Pennsylvania. Dr. Chadehumbe is rated as an Advanced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Spasmus Nutans, Stereotypic Movement Disorder, Susac Syndrome, and Shapiro Syndrome.

      Advanced in Distal 18q Deletion Syndrome
      Nurse Practitioner
      Advanced in Distal 18q Deletion Syndrome
      Nurse Practitioner
      34th St. & Civic Ctr Blvd, The Childrens Hosp. Of Phila, Division Of Endocrinology, 11nw, Suite 30, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Marianne Buzby is a Nurse Practitioner in Philadelphia, Pennsylvania. Ms. Buzby is rated as an Advanced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are 15q11.2 Microdeletion, Distal 18q Deletion Syndrome, and Jacobsen Syndrome.

      Advanced in Distal 18q Deletion Syndrome
      Medical Genetics | Pediatrics
      Advanced in Distal 18q Deletion Syndrome
      Medical Genetics | Pediatrics
      3401 Civic Center Blvd, 9nw63, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Dena Matalon is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Matalon is rated as an Advanced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Campomelia Cumming Type, Coffin-Lowry Syndrome, Microcephaly Deafness Syndrome, and Nevoid Basal Cell Carcinoma Syndrome.

      Jahangir Rouhani
      Experienced in Distal 18q Deletion Syndrome
      Experienced in Distal 18q Deletion Syndrome

      UPMC Neonatology Services

      1500 Highlands Drive, 
      Lititz, PA 
      Languages Spoken:
      English

      Jahangir Rouhani, MD, specializes in neonatology and is board-certified in pediatrics and neonatal-perinatal medicine by the American Board of Pediatrics. He practices at UPMC Neonatology Services and is affiliated with UPMC Carlisle, UPMC Memorial, UPMC Lititz, and UPMC Hanover. Dr. Rouhani received his medical degree from the American University of the Caribbean School of Medicine and completed his residency and fellowship programs at Vidant Medical Center. Dr. Rouhani is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Congenital Unilateral Pulmonary Hypoplasia, Distal 18q Deletion Syndrome, Jacobsen Syndrome, and 15q11.2 Microdeletion.

      David S. Goldberg
      Experienced in Distal 18q Deletion Syndrome
      Ophthalmology
      Experienced in Distal 18q Deletion Syndrome
      Ophthalmology

      Eye Consultants Of Pennsylvania PC

      1 Granite Point Dr, Suite 100, 
      Wyomissing, PA 
      Languages Spoken:
      English

      David Goldberg is an Ophthalmologist in Wyomissing, Pennsylvania. Dr. Goldberg is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Strabismus, Esotropia, Blocked Tear Duct, and Entropion.

      Experienced in Distal 18q Deletion Syndrome
      Pediatrics
      Experienced in Distal 18q Deletion Syndrome
      Pediatrics
      830 5th Ave Ste 103, 
      Chambersburg, PA 
      Languages Spoken:
      English

      Mary Hall is a Pediatrics provider in Chambersburg, Pennsylvania. Dr. Hall is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Delayed Growth, Distal 18q Deletion Syndrome, 15q11.2 Microdeletion, and Jacobsen Syndrome.

      Experienced in Distal 18q Deletion Syndrome
      Experienced in Distal 18q Deletion Syndrome
      111 S 11th St, Suite 2170, 
      Philadelphia, PA 
      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 Distal 18q Deletion Syndrome. Her top areas of expertise are Autism Spectrum Disorder, Delayed Growth, Developmental Dysphasia Familial, and Cantu Syndrome.

      Experienced in Distal 18q Deletion Syndrome
      Medical Genetics | Pediatrics
      Experienced in Distal 18q Deletion 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 Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Phenylketonuria (PKU), Proteus Syndrome, Cantu Syndrome, and Marshall-Smith Syndrome.

      Experienced in Distal 18q Deletion Syndrome
      Experienced in Distal 18q Deletion Syndrome
      3223 N Broad St, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Ashleigh Hall is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Hall is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Jacobsen Syndrome, 15q11.2 Microdeletion, Distal 18q Deletion Syndrome, and Autism Spectrum Disorder.

      Experienced in Distal 18q Deletion Syndrome
      Neurosurgery
      Experienced in Distal 18q Deletion Syndrome
      Neurosurgery
      3551 N Broad St, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Amer Samdani is a Neurosurgery provider in Philadelphia, Pennsylvania. Dr. Samdani is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Scoliosis, Adolescent Idiopathic Scoliosis, Kyphosis, Spinal Fusion, and Osteotomy. Dr. Samdani is currently accepting new patients.

      Experienced in Distal 18q Deletion Syndrome
      Developmental and Behavioral Pediatrics | Medical Genetics | Pediatrics
      Experienced in Distal 18q Deletion Syndrome
      Developmental and Behavioral Pediatrics | Medical Genetics | Pediatrics
      500 University Dr, 
      Hershey, PA 
      Languages Spoken:
      English

      Jeanette Ramer is a Developmental and Behavioral Pediatrics specialist and a Medical Genetics provider in Hershey, Pennsylvania. Dr. Ramer is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Autism Spectrum Disorder, Cri-Du-Chat Syndrome, Chromosome 6q Deletion, and Jacobsen Syndrome.

      Experienced in Distal 18q Deletion Syndrome
      Pediatric Pulmonology | Pediatrics
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Pulmonology | Pediatrics
      160 E Erie Ave, 
      Philadelphia, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Vatsala Ramprasad is a Pediatric Pulmonologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ramprasad is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Asthma, Asthma in Children, Congenital Pulmonary Lymphangiectasia, and Congenital Central Hypoventilation Syndrome. Dr. Ramprasad is currently accepting new patients.

      Experienced in Distal 18q Deletion Syndrome
      Experienced in Distal 18q Deletion Syndrome
      3401 Civic Center Blvd, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Kelly Regan-Fendt is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Regan-Fendt is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Microcephaly Deafness Syndrome, CHARGE Syndrome, Wildervanck Syndrome, and Early Infantile Epileptic Encephalopathy.

      Experienced in Distal 18q Deletion Syndrome
      Nurse Practitioner
      Experienced in Distal 18q Deletion Syndrome
      Nurse Practitioner

      Reading Behavioral Healthcare, LLC

      201 Wellness Way, 
      Reading, PA 
      Languages Spoken:
      English

      Theresa Sharp is a Nurse Practitioner in Reading, Pennsylvania. Ms. Sharp is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Oppositional Defiant Disorder (ODD), Seasonal Affective Disorder (SAD), Jacobsen Syndrome, and Distal 18q Deletion Syndrome.

      Experienced in Distal 18q Deletion Syndrome
      Pediatric Gastroenterology | Gastroenterology | Pediatrics
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Gastroenterology | Gastroenterology | Pediatrics

      Stc Pediatrics LLC

      160 E Erie Ave, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Khadija Toor is a Pediatric Gastroenterologist and a Gastroenterologist in Philadelphia, Pennsylvania. Dr. Toor is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Delayed Growth, Lactose Intolerance, Tenesmus, and Encopresis.

      Experienced in Distal 18q Deletion Syndrome
      Developmental and Behavioral Pediatrics | Pediatrics
      Experienced in Distal 18q Deletion Syndrome
      Developmental and Behavioral Pediatrics | Pediatrics
      3550 Market St, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Sandhyaa Iyengar is a Developmental and Behavioral Pediatrics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Iyengar is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Autism Spectrum Disorder, Delayed Growth, CHARGE Syndrome, and Wildervanck Syndrome.

      Showing 1-20 of 49

      Last Updated: 10/30/2025

      What is the definition of Distal 18q Deletion Syndrome?

      Distal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "distal" means that the missing piece occurs near one end of the chromosome. Distal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals.

      When should I see a Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion Syndrome doctors in Pennsylvania, US?

      Look for the filter feature on the left side of the Distal 18q Deletion 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 Distal 18q Deletion Syndrome doctor that offers video calls?

      Look for the filter feature on the left-side of the Distal 18q Deletion 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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