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    Last Updated: 01/09/2026

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    MediFind found 38 doctor with experience in Distal 18q Deletion Syndrome near Philadelphia, PA. Of these, 32 are Experienced and 6 are Advanced.

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    LocationClose
    38 providers found
      Dorothy H. Hendricks
      Experienced in Distal 18q Deletion Syndrome
      Ophthalmology | Pediatrics
      Experienced in Distal 18q Deletion Syndrome
      Ophthalmology | Pediatrics

      Ophthalmology - Wills Eye Hospital

      840 Walnut Street, Floor 10, 
      Philadelphia, PA 
       (0.6 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Dorothy Hendricks is a Pediatrics specialist and an Ophthalmologist in Philadelphia, Pennsylvania. Dr. Hendricks is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Amblyopia, Strabismus, Retinochoroidal Coloboma, and Esotropia. Dr. Hendricks is currently accepting new patients.

      Mary M. Stephens
      Experienced in Distal 18q Deletion Syndrome
      Family Medicine | Pediatrics
      Experienced in Distal 18q Deletion Syndrome
      Family Medicine | Pediatrics
      3 Crescent Drive, Floor 2, 
      Philadelphia, PA 
       (3.9 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Mary Stephens is a primary care provider, practicing in Pediatrics in Philadelphia, Pennsylvania. Dr. Stephens is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Down Syndrome, Autism Spectrum Disorder, Cerebral Palsy, and Moebius Syndrome. Dr. Stephens is currently accepting new patients.

      Experienced in Distal 18q Deletion Syndrome
      Neurology
      Experienced in Distal 18q Deletion Syndrome
      Neurology

      Penn Neuroscience Center - Neurology

      3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Colin Ellis is a Neurologist in Philadelphia, Pennsylvania. Dr. Ellis is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Partial Familial Epilepsy, Seizures, Epilepsy, and Generalized Tonic-Clonic Seizure. Dr. Ellis is currently accepting new patients.

      Learn about our expert tiers
      Advanced in Distal 18q Deletion Syndrome
      Pediatrics | Neurology
      Advanced in Distal 18q Deletion Syndrome
      Pediatrics | Neurology
      3500 Civic Center Blvd, 
      Philadelphia, PA 
       (1.6 miles away)
      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
      Medical Genetics | Pediatrics
      Advanced in Distal 18q Deletion Syndrome
      Medical Genetics | Pediatrics
      3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Genetics, 
      Philadelphia, PA 
       (1.6 miles away)
      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.

      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 
       (1.6 miles away)
      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, Microcephaly Deafness Syndrome, Coffin-Lowry Syndrome, and Nevoid Basal Cell Carcinoma 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 
       (1.8 miles away)
      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.

      Steven B. Ritz
      Experienced in Distal 18q Deletion Syndrome
      Pediatrics | Pediatric Cardiology
      Experienced in Distal 18q Deletion Syndrome
      Pediatrics | Pediatric Cardiology
      325 Marlton Pike East, 
      Cherry Hill, NJ 
       (9.3 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Steven Ritz is a Pediatrics specialist and a Pediatric Cardiologist in Cherry Hill, New Jersey. Dr. Ritz is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Familial Neurocardiogenic Syncope, Heart Murmurs, Patent Ductus Arteriosus, and Fainting. Dr. Ritz is currently accepting new patients.

      Experienced in Distal 18q Deletion Syndrome
      Pediatrics | General Practice
      Experienced in Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion Syndrome
      Experienced in Distal 18q Deletion 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 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
      Sleep Medicine | Neurology | Pediatric Neurology
      Experienced in Distal 18q Deletion 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 Distal 18q Deletion Syndrome. His top areas of expertise are Obstructive Sleep Apnea, Insomnia, Down Syndrome, and Neural Crest Tumor.

      Experienced in Distal 18q Deletion Syndrome
      Ophthalmology
      Experienced in Distal 18q Deletion 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 Distal 18q Deletion Syndrome. His top areas of expertise are Strabismus, Esotropia, Amblyopia, and Acrofacial Dysostosis Nager Type.

      Experienced in Distal 18q Deletion Syndrome
      Pediatric Pulmonology | Pulmonary Medicine | Intensive Care Medicine
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Pulmonology | Pulmonary Medicine | Intensive Care Medicine

      Childrens Health Care Associates Inc

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

      Howard Panitch is a Pediatric Pulmonologist and a Pulmonary Medicine provider in Philadelphia, Pennsylvania. Dr. Panitch is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. His top areas of expertise are Bronchopulmonary Dysplasia, Congenital Unilateral Pulmonary Hypoplasia, Tracheobronchomalacia, Spinal Muscular Atrophy Type 2, and Gastrostomy.

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

      Childrens Health Care Associates Inc

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

      Sonal Sharma is a Pediatric Neurologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Sharma is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Esophageal Perforation, Microcephaly, Delayed Growth, Thrombectomy, and Carotid Artery Surgery.

      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 
       (1.5 miles away)
      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, Wildervanck Syndrome, and Koolen De Vries Syndrome.

      Experienced in Distal 18q Deletion Syndrome
      Experienced in Distal 18q Deletion Syndrome
      3401 Civic Center Blvd, 
      Philadelphia, PA 
       (1.6 miles away)
      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 CHARGE Syndrome, Wildervanck Syndrome, Early Infantile Epileptic Encephalopathy, and Microcephaly Deafness Syndrome.

      Experienced in Distal 18q Deletion Syndrome
      Pediatric Pulmonology | Pulmonary Medicine
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Pulmonology | Pulmonary Medicine
      3401 Civic Center Blvd, 
      Philadelphia, PA 
       (1.6 miles away)
      Languages Spoken:
      English

      Danna Tauber is a Pediatric Pulmonologist and a Pulmonary Medicine provider in Philadelphia, Pennsylvania. Dr. Tauber is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Wolf-Hirschhorn Syndrome, GM1 Gangliosidosis, Koolen De Vries Syndrome, and Branchiootorenal Syndrome.

      Experienced in Distal 18q Deletion Syndrome
      Pediatrics | Neurology
      Experienced in Distal 18q Deletion Syndrome
      Pediatrics | Neurology
      3401 Civic Center Blvd, 9nw63, 
      Philadelphia, PA 
       (1.6 miles away)
      Languages Spoken:
      English

      Naomi Lewin is a Pediatrics specialist and a Neurologist in Philadelphia, Pennsylvania. Dr. Lewin is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Seizures, Continuous Spike-Wave During Slow Sleep Syndrome, Photosensitive Epilepsy, and Memory Loss.

      Experienced in Distal 18q Deletion Syndrome
      Pediatric Neurology | Pediatrics | Neurology
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Neurology | Pediatrics | Neurology
      3401 Civic Center Blvd, Department Of Neurology, 
      Philadelphia, PA 
       (1.6 miles away)
      Languages Spoken:
      English

      Alexandra Kornbluh is a Pediatric Neurologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Kornbluh is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Anti-NMDA Receptor Encephalitis, Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease, Encephalitis, and Optic Neuritis.

      Experienced in Distal 18q Deletion Syndrome
      Pediatric Gastroenterology | Gastroenterology | Pediatrics
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Gastroenterology | Gastroenterology | Pediatrics
      3401 Civic Center Blvd, Children's Hospital Of Phila - Gastro & Nutrition, 
      Philadelphia, PA 
       (1.6 miles away)
      Languages Spoken:
      English

      Diane Barsky is a Pediatric Gastroenterologist and a Gastroenterologist in Philadelphia, Pennsylvania. Dr. Barsky is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Gastroschisis, Delayed Growth, Microcephaly, and Atresia of Small Intestine.

      Showing 1-20 of 38

      Last Updated: 01/09/2026

      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 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 Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion 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 Distal 18q Deletion 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 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 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 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 near Philadelphia, PA?

      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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