The 20 Best Koolen De Vries Syndrome Doctors Near Me in Springfield, MA

Find the Top Koolen De Vries Syndrome Experts and Specialists

Last Updated: 02/22/2026

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MediFind found 8 doctor with experience in Koolen De Vries Syndrome near Springfield, MA. Of these, 7 are Experienced and 1 are Advanced.

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8 providers found
    Advanced in Koolen De Vries Syndrome
    Orthopedics
    Advanced in Koolen De Vries Syndrome
    Orthopedics

    Shriners Hospitals For Children-Springfield

    516 Carew St, 
    Springfield, MA 
     (1.4 miles away)
    Languages Spoken:
    English

    Lael Luedtke is an Orthopedics provider in Springfield, Massachusetts. Dr. Luedtke is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Claw Foot, Clubfoot, Beukes Familial Hip Dysplasia, and Caudal Regression Syndrome.

    Experienced in Koolen De Vries Syndrome
    Nurse Practitioner
    Experienced in Koolen De Vries Syndrome
    Nurse Practitioner
    516 Carew St, 
    Springfield, MA 
     (1.4 miles away)
    Languages Spoken:
    English

    Keri Garry is a Nurse Practitioner in Springfield, Massachusetts. Ms. Garry is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Freiberg's Disease, Absence of Tibia, PIK3CA-Related Overgrowth Spectrum, and Hemi 3 Syndrome.

    Experienced in Koolen De Vries Syndrome
    Experienced in Koolen De Vries Syndrome

    Baystate Medical Center

    759 Chestnut St, 
    Springfield, MA 
     (1.6 miles away)
    Languages Spoken:
    English

    Katherine Harer is a Pediatrics provider in Springfield, Massachusetts. Dr. Harer is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Wildervanck Syndrome, Microcephaly Deafness Syndrome, Early Infantile Epileptic Encephalopathy, and CHARGE Syndrome.

    Learn about our expert tiers
    Experienced in Koolen De Vries Syndrome
    Pediatric Neurology
    Experienced in Koolen De Vries Syndrome
    Pediatric Neurology

    Baystate Pediatric Neurology

    50 Wason Ave, 
    Springfield, MA 
     (2.1 miles away)
    Languages Spoken:
    English

    Adam David is a Pediatric Neurologist in Springfield, Massachusetts. Dr. David is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Seizures, Genetic Epilepsy with Febrile Seizures Plus (GEFS+), Generalized Tonic-Clonic Seizure, and Epilepsy.

    Experienced in Koolen De Vries Syndrome
    Medical Genetics | Pediatrics
    Experienced in Koolen De Vries Syndrome
    Medical Genetics | Pediatrics

    Baystate Medical Practices Inc

    50 Wason Ave, 
    Springfield, MA 
     (2.1 miles away)
    Languages Spoken:
    English

    Mary-alice Abbott is a Medical Genetics specialist and a Pediatrics provider in Springfield, Massachusetts. Dr. Abbott is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Pompe Disease, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Danon Disease, and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome).

    Experienced in Koolen De Vries Syndrome
    Pediatric Pulmonology
    Experienced in Koolen De Vries Syndrome
    Pediatric Pulmonology

    Baystate Pediatric Pulmonology

    50 Wason Ave, 
    Springfield, MA 
     (2.1 miles away)
    Languages Spoken:
    English

    Nico Vehse is a Pediatric Pulmonologist in Springfield, Massachusetts. Dr. Vehse is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Cystic Fibrosis, Primary Ciliary Dyskinesia (PCD), Ciliary Dyskinesia-Bronchiectasis, and Kartagener Syndrome.

    Experienced in Koolen De Vries Syndrome
    Experienced in Koolen De Vries Syndrome

    Holyoke Medical Center

    575 Beech St, 
    Holyoke, MA 
     (7.1 miles away)
    Languages Spoken:
    English

    Yuri Khibkin is a Physiatrist in Holyoke, Massachusetts. Dr. Khibkin is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Chronic Pain, Cervical Spondylosis, Complex Regional Pain Syndrome, and Sacroiliac Joint Disease.

    Experienced in Koolen De Vries Syndrome
    Endocrinology
    Experienced in Koolen De Vries Syndrome
    Endocrinology

    Hampshire Cardiovascular Associates LLC

    22 Atwood Dr, 
    Northampton, MA 
     (14.1 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    John Nicasio is an Endocrinologist in Northampton, Massachusetts. Dr. Nicasio is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Hyperparathyroidism, Parathyroid Hyperplasia, Familial Isolated Hyperparathyroidism, and Osteoporosis.

    Showing 1-8 of 8

    Last Updated: 02/22/2026

    What is the definition of Koolen De Vries Syndrome?

    Koolen de Vries syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral features. Other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features. Males with Koolen de Vries syndrome often have undescended testes (cryptorchidism). Other symptoms may include defects in the walls between the chambers of the heart (septal defects) or other heart defects, kidney problems, and skeletal anomalies such as foot deformities. It is caused by genetic changes in the KANSL1 gene, or by the loss of a small amount of genetic material in chromosome 17 that includes the KANSL1 gene (chromosome 17 q21.31 microdeletion). Inheritance is autosomal dominant.

    When should I see a Koolen De Vries Syndrome doctor near Springfield, MA?

    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 Koolen De Vries Syndrome doctor near Springfield, MA?

    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 Koolen De Vries Syndrome doctors near Springfield, MA?

    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 Koolen De Vries Syndrome doctors near Springfield, MA?

    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 Koolen De Vries Syndrome doctor near Springfield, MA?

    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 Koolen De Vries Syndrome doctor search results page. 

    Why is it important to get a second opinion from a different Koolen De Vries 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 Koolen De Vries Syndrome doctor near Springfield, MA?

    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 Koolen De Vries 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 Koolen De Vries 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 Koolen De Vries Syndrome doctors near Springfield, MA?

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

    Look for the filter feature on the left-side of the Koolen De Vries 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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