The 20 Best Jacobsen Syndrome Doctors Near Me in Pennsylvania, US

Find the Top Jacobsen Syndrome Experts and Specialists

The 20 Best Jacobsen Syndrome Doctors in Pennsylvania, US

Last Updated: 02/22/2026

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MediFind found 51 doctor with experience in Jacobsen Syndrome near Pennsylvania, US. Of these, 43 are Experienced, 6 are Advanced and 2 are Distinguished.

Location
LocationClose
51 providers found
    Experienced in Jacobsen Syndrome
    Experienced in Jacobsen Syndrome

    Reading Hospital

    420 South 5th Avenue, 
    West Reading, PA 
    Languages Spoken:
    English

    . Dr. Walker is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. His top areas of expertise are Jacobsen Syndrome and Bone Graft.

    Experienced in Jacobsen Syndrome
    Radiology | Pediatric Radiology
    Experienced in Jacobsen 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 Jacobsen Syndrome. His top areas of expertise are Choroid Plexus Cyst, Familial Porencephaly, Arachnoid Cysts, and Aseptic and Alopecic Nodules of Scalp (AANS).

    Advanced in Jacobsen Syndrome
    Advanced in Jacobsen 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 Advanced provider by MediFind in the treatment of Jacobsen Syndrome. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

    Learn about our expert tiers
    Vatsala Ramprasad
    Experienced in Jacobsen Syndrome
    Pediatric Pulmonology | Sleep Medicine
    Experienced in Jacobsen Syndrome
    Pediatric Pulmonology | Sleep Medicine

    St. Christopher's Pediatric Associates Pulmonary & Allergy - E. Erie Avenue

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

    . Dr. Ramprasad is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. Her top areas of expertise are Asthma, Asthma in Children, Congenital Pulmonary Lymphangiectasia, and Congenital Central Hypoventilation Syndrome.

    David S. Goldberg
    Experienced in Jacobsen Syndrome
    Ophthalmology
    Experienced in Jacobsen Syndrome
    Ophthalmology

    Eye Consultants Of Pennsylvania PC

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

    . Dr. Goldberg is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. His top areas of expertise are Strabismus, Esotropia, Blocked Tear Duct, and Entropion.

    Nitin Kumar
    Experienced in Jacobsen Syndrome
    Pediatrics
    Experienced in Jacobsen Syndrome
    Pediatrics

    St. Christopher's Pediatric Associates - Heacock Rd

    680 Heacock Rd, Ste 101, 
    Yardley, PA 
    Languages Spoken:
    English

    . Dr. Kumar is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. His top areas of expertise are Obesity in Children, Delayed Growth, Autism Spectrum Disorder, and Increased Head Circumference.

    Andreea S. Marinescu
    Experienced in Jacobsen Syndrome
    Pediatric Endocrinology
    Experienced in Jacobsen Syndrome
    Pediatric Endocrinology

    St. Christopher's Pediatric Associates Endocrinology - E. Erie Avenue

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

    . Dr. Marinescu is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. Her top areas of expertise are Precocious Puberty, Short Stature (Growth Disorders), Familial Short Stature (FSS), and Idiopathic Short Stature (ISS).

    Jennifer Tiffany
    Experienced in Jacobsen Syndrome
    Nurse Practitioner
    Experienced in Jacobsen Syndrome
    Nurse Practitioner

    St. Christopher's Pediatric Associates Neurology - E. Erie Avenue

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

    . Ms. Tiffany is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. Her top areas of expertise are 15q11.2 Microdeletion, Jacobsen Syndrome, and Distal 18q Deletion Syndrome.

    Khadija T. Toor
    Experienced in Jacobsen Syndrome
    Pediatric Gastroenterology | Pediatrics
    Experienced in Jacobsen Syndrome
    Pediatric Gastroenterology | Pediatrics

    St. Christopher's Pediatric Associates Gastroenterology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English, Hindi, Punjabi, Urdu

    . Dr. Toor is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. Her top areas of expertise are Delayed Growth, Lactose Intolerance, Tenesmus, and Encopresis.

    Stephen F. Lewis
    Advanced in Jacobsen Syndrome
    Advanced in Jacobsen Syndrome
    2300 Computer Road, Suite H43, 
    Willow Grove, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Stephen Lewis is a Neurologist in Willow Grove, Pennsylvania. Dr. Lewis is rated as an Advanced provider by MediFind in the treatment of Jacobsen 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.

    James J. Daley
    Advanced in Jacobsen Syndrome
    Advanced in Jacobsen Syndrome

    Phoenix Rehabilitation And Health Services Inc

    2000 Westinghouse Dr, Suite 200, 
    Cranberry Township, PA 
    Languages Spoken:
    English

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

    Experienced in Jacobsen Syndrome
    Neurosurgery
    Experienced in Jacobsen Syndrome
    Neurosurgery

    St. Christopher's Hospital For Children

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

    . Dr. Samdani is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. His top areas of expertise are Scoliosis, Adolescent Idiopathic Scoliosis, Kyphosis, Spinal Fusion, and Osteotomy.

    Experienced in Jacobsen Syndrome
    Medical Genetics | Pediatrics
    Experienced in Jacobsen Syndrome
    Medical Genetics | Pediatrics

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

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

    . Dr. Melnyk is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. His top areas of expertise are Ehlers-Danlos Syndrome (EDS), Musculocontractural Ehlers-Danlos Syndrome (mcEDS), Jacobsen Syndrome, and Chromosome 6q Deletion.

    Distinguished in Jacobsen Syndrome
    Hematology | Oncology
    Distinguished in Jacobsen Syndrome
    Hematology | Oncology

    Office

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

    Mortimer Poncz is a Hematologist and an Oncologist in Philadelphia, Pennsylvania. Dr. Poncz is rated as a Distinguished provider by MediFind in the treatment of Jacobsen Syndrome. His top areas of expertise are Jacobsen Syndrome, Acute Erythroid Leukemia (AEL), Blood Clots, and Hemophilia A.

    Distinguished in Jacobsen Syndrome
    Distinguished in Jacobsen Syndrome

    The Milton S. Hershey Medical Center

    500 University Dr, 
    Hershey, PA 
    Languages Spoken:
    English

    Gayatra Mainali is a Neurologist in Hershey, Pennsylvania. Dr. Mainali is rated as a Distinguished provider by MediFind in the treatment of Jacobsen Syndrome. Her top areas of expertise are Jacobsen Syndrome, Autism Spectrum Disorder, GM1 Gangliosidosis, and Microcephaly.

    Ruchi Gupta
    Experienced in Jacobsen Syndrome
    Pediatric Cardiology
    Experienced in Jacobsen 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 Jacobsen Syndrome. Her top areas of expertise are Patent Ductus Arteriosus, Ventricular Septal Defects, Heart Murmurs, and Vascular Ring.

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

    Nicholas A. Sala
    Advanced in Jacobsen Syndrome
    Ophthalmology
    Advanced in Jacobsen 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 Jacobsen Syndrome. His top areas of expertise are Strabismus, Esotropia, Amblyopia, and Chalazion.

    Experienced in Jacobsen Syndrome
    Pediatric Cardiology
    Experienced in Jacobsen 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 Jacobsen 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.

    Experienced in Jacobsen Syndrome
    Neurology
    Experienced in Jacobsen 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 Jacobsen Syndrome. His top areas of expertise are Partial Familial Epilepsy, Seizures, Partial Seizure, and Generalized Tonic-Clonic Seizure. Dr. Ellis is currently accepting new patients.

    Showing 1-20 of 51

    Last Updated: 02/22/2026

    What is the definition of Jacobsen Syndrome?

    Jacobsen syndrome is a condition caused by a loss (deletion) of genetic material from chromosome 11. Because this deletion most commonly occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.

    When should I see a Jacobsen 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 Jacobsen 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 Jacobsen 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 Jacobsen 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 Jacobsen 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 Jacobsen Syndrome doctor search results page. 

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

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

    Look for the filter feature on the left-side of the Jacobsen 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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