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    Last Updated: 01/09/2026

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    MediFind found 56 doctor with experience in Distal 18q Deletion Syndrome near Pennsylvania, US. Of these, 49 are Experienced and 7 are Advanced.

    Location
    LocationClose
    56 providers found
      Nicholas 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.

      James J. Daley
      Advanced in Distal 18q Deletion Syndrome
      Advanced in Distal 18q Deletion Syndrome

      Good Shepherd Rehabilitation Hospital

      2845 Ctr Valley Pkwy, Suite 450, 
      Center Valley, PA 
      Languages Spoken:
      English

      James Daley is a Physiatrist in Center Valley, 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 Distal 18q Deletion Syndrome, 15q11.2 Microdeletion, Jacobsen Syndrome, and Stroke.

      Stephen F. Lewis
      Advanced in Distal 18q Deletion Syndrome
      Advanced in Distal 18q Deletion Syndrome
      2300 Computer Road, Suite H43, 
      Willow Grove, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Stephen Lewis is a Neurologist in Willow Grove, 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. Dr. Lewis is currently accepting new patients.

      Learn about our expert tiers
      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 
      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.

      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, Farsi
      Accepting New Patients

      Jahangir Rouhani is a Neonatologist in Lititz, Pennsylvania. 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, Jacobsen Syndrome, 15q11.2 Microdeletion, and Distal 18q Deletion Syndrome. Dr. Rouhani is currently accepting new patients.

      Srinivas N. Halthore
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Neurology
      Experienced in Distal 18q Deletion 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 Distal 18q Deletion Syndrome. His top areas of expertise are Shaken Baby Syndrome, Zika Virus Disease, Microcephaly, and Microcephaly with Spastic Quadriplegia.

      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 
      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.

      Ruchi Gupta
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Cardiology
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Cardiology

      Children's Hospital Of Philadelphia-Cardiac Center Allentown

      1605 N Cedar Crest Blvd, Suites 117 & 119, 
      Allentown, PA 
      Languages Spoken:
      English, Hindi

      Ruchi Gupta is a Pediatric Cardiologist in Allentown, Pennsylvania. Dr. Gupta is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Patent Ductus Arteriosus, Ventricular Septal Defects, Heart Murmurs, and Vascular Ring.

      Kirsten D. Gustafson
      Experienced in Distal 18q Deletion Syndrome
      Nurse Practitioner
      Experienced in Distal 18q Deletion Syndrome
      Nurse Practitioner
      1259 S Cedar Crest Blvd Ste 230, 
      Allentown, PA 
      Languages Spoken:
      English

      Kirsten Gustafson is a Nurse Practitioner in Allentown, Pennsylvania. Ms. Gustafson 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), 15q11.2 Microdeletion, and Jacobsen Syndrome.

      Laufey Sigurdardottir
      Experienced in Distal 18q Deletion Syndrome
      Neurology | Pediatric Neurology
      Experienced in Distal 18q Deletion Syndrome
      Neurology | Pediatric Neurology

      Geisinger Medical Center - Pediatric Neurology

      100 North Academy Avenue, 
      Danville, PA 
      Languages Spoken:
      English

      Laufey Sigurdardottir is a Neurologist and a Pediatric Neurologist in Danville, Pennsylvania. Dr. Sigurdardottir is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Seizures, Generalized Tonic-Clonic Seizure, Memory Loss, and Autism Spectrum Disorder.

      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 
      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.

      Experienced in Distal 18q Deletion Syndrome
      Pediatric Cardiology
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Cardiology

      The Milton S. Hershey Medical Center

      500 University Dr, 
      Hershey,, PA 
      Languages Spoken:
      English

      Tulasi Khandan is a Pediatric Cardiologist in Hershey,, Pennsylvania. Dr. Khandan is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Heart Murmurs, Ventricular Septal Defects, Short QT Syndrome, and Brugada Syndrome.

      Experienced in Distal 18q Deletion Syndrome
      Pediatric Cardiology
      Experienced in Distal 18q Deletion Syndrome
      Pediatric Cardiology

      CHOP Specialty Care, Lancaster

      2104 Harrisburg Pike, Suite 300, 
      Lancaster, PA 
      Languages Spoken:
      English
      Accepting New Patients

      Alexa Hogarty is a Pediatric Cardiologist in Lancaster, Pennsylvania. Dr. Hogarty is rated as an Experienced provider by MediFind in the treatment of Distal 18q Deletion Syndrome. Her top areas of expertise are Kawasaki Disease, Multisystem Inflammatory Syndrome in Children (MIS-C), Dextrocardia with Situs Inversus, and Situs Inversus. Dr. Hogarty is currently accepting new patients.

      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 
      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
      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, Microcephaly Deafness Syndrome, Coffin-Lowry Syndrome, and Nevoid Basal Cell Carcinoma Syndrome.

      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, Jacobsen Syndrome, Distal 18q Deletion Syndrome, and 15q11.2 Microdeletion.

      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), Simpson-Golabi-Behmel Syndrome, Perlman Syndrome, and Hemi 3 Syndrome.

      Showing 1-20 of 56

      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 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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