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    Last Updated: 10/30/2025

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    MediFind found 429 doctor with experience in Koolen De Vries Syndrome near Massachusetts, US. Of these, 390 are Experienced and 39 are Advanced.

    Location
    LocationClose
    429 providers found
      Experienced in Koolen De Vries Syndrome
      Urology
      Experienced in Koolen De Vries Syndrome
      Urology
      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Ted Lee is an Urologist in Boston, Massachusetts. Dr. Lee is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Epispadias, and Cloacal Exstrophy. Dr. Lee is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Ophthalmology
      Advanced in Koolen De Vries Syndrome
      Ophthalmology

      Childrens Hospital Ophthalmology Foundation Inc

      300 Longwood Ave, Bch3446, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Anne Fulton is an Ophthalmologist in Boston, Massachusetts. Dr. Fulton is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Retinopathy of Prematurity, X-Linked Congenital Stationary Night Blindness, Retinopathy Pigmentary Mental Retardation, and X-Linked Juvenile Retinoschisis. Dr. Fulton is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Advanced in Koolen De Vries Syndrome
      Pediatric Cardiology | Cardiology
      Advanced in Koolen De Vries Syndrome
      Pediatric Cardiology | Cardiology

      Boston Childrens Heart Foundation Inc

      300 Longwood Ave, 
      Boston, MA 
      Experience:
      9+ years
      Languages Spoken:
      English
      Accepting New Patients

      Kristin Bonello is a Pediatric Cardiologist and a Cardiologist in Boston, Massachusetts. Dr. Bonello has been practicing medicine for over 9 years and is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Arachnodactyly, Marfan Syndrome, Congenital Contractural Arachnodactyly, and Retinopathy Pigmentary Mental Retardation. Dr. Bonello is currently accepting new patients.

      Learn about our expert tiers
      Advanced in Koolen De Vries Syndrome
      Cardiology | Pediatrics | Pediatric Cardiology
      Advanced in Koolen De Vries Syndrome
      Cardiology | Pediatrics | Pediatric Cardiology

      Baystate Medical Practices Inc

      759 Chestnut St, 
      Springfield, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Michael Singh is a Cardiologist and a Pediatrics provider in Springfield, Massachusetts. Dr. Singh is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Marfan Syndrome, Congenital Heart Disease (CHD), Bicuspid Aortic Valve, and Truncus Arteriosus. Dr. Singh is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Otolaryngology
      Advanced in Koolen De Vries Syndrome
      Otolaryngology
      300 Longwood Ave, Lo-367, 
      Boston, MA 
      Languages Spoken:
      English, Spanish
      Accepting New Patients

      Margaret Kenna is an Otolaryngologist in Boston, Massachusetts. Dr. Kenna is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Infant Hearing Loss, Hearing Loss, Familial Deafness, Adenoidectomy, and Myringotomy. Dr. Kenna is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Medical Genetics | Pediatric Neurology | Pediatrics
      Advanced in Koolen De Vries Syndrome
      Medical Genetics | Pediatric Neurology | Pediatrics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Lance Rodan is a Medical Genetics specialist and a Pediatric Neurologist in Boston, Massachusetts. Dr. Rodan is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Hennekam Syndrome, Increased Head Circumference, Polymicrogyria, Retinopathy Pigmentary Mental Retardation, and Deep Brain Stimulation. Dr. Rodan is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Pediatric Pulmonology | Pediatrics
      Advanced in Koolen De Vries Syndrome
      Pediatric Pulmonology | Pediatrics
      300 Longwood Ave, Division Of Respiratory Diseases, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Kenan Haver is a Pediatric Pulmonologist and a Pediatrics provider in Boston, Massachusetts. Dr. Haver is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Situs Inversus, Ciliary Dyskinesia-Bronchiectasis, Early Infantile Epileptic Encephalopathy, and Wildervanck Syndrome. Dr. Haver is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Physiatry | Orthopedics
      Advanced in Koolen De Vries Syndrome
      Physiatry | Orthopedics

      Children's Orthopaedic Surgery Foundation Inc

      300 Longwood Ave, 
      Boston, MA 
      Experience:
      16+ years
      Languages Spoken:
      English
      Accepting New Patients

      David Fogelman is a Physiatrist and an Orthopedics provider in Boston, Massachusetts. Dr. Fogelman has been practicing medicine for over 16 years and is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Spastic Diplegia Infantile Type, Cerebral Palsy, Spasticity, and Moebius Syndrome. Dr. Fogelman is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Otolaryngology
      Advanced in Koolen De Vries Syndrome
      Otolaryngology

      Chmc Otolaryngologic Foundation, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Roger Nuss is an Otolaryngologist in Boston, Massachusetts. Dr. Nuss is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Spasmodic Dysphonia, Laryngomalacia, Velopharyngeal Insufficiency, Myringotomy, and Adenoidectomy. Dr. Nuss is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Advanced in Koolen De Vries Syndrome

      The General Hospital Corporation

      55 Fruit St, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Othon Iliopoulos is an Oncologist in Boston, Massachusetts. Dr. Iliopoulos is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Hemangioblastoma, Hypothalamic Hamartomas, Renal Cell Carcinoma (RCC), and Koolen De Vries Syndrome. Dr. Iliopoulos is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Pediatric Surgery | General Surgery
      Advanced in Koolen De Vries Syndrome
      Pediatric Surgery | General Surgery

      Chmc Surgical Foundation Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English, Spanish
      Accepting New Patients

      Belinda Hsi Dickie is a Pediatric Surgeon and a General Surgeon in Boston, Massachusetts. Dr. Hsi Dickie is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Hirschsprung Disease, Imperforate Anus, VACTERL Association, Omphalocele, and Myringotomy. Dr. Hsi Dickie is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Ophthalmology
      Advanced in Koolen De Vries Syndrome
      Ophthalmology
      243 Charles St, 
      Boston, MA 
      Languages Spoken:
      English

      Ryan Gise is an Ophthalmologist in Boston, Massachusetts. Dr. Gise is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Papilledema, Increased Intracranial Pressure, Strabismus, and Amblyopia.

      Advanced in Koolen De Vries Syndrome
      Otolaryngology
      Advanced in Koolen De Vries Syndrome
      Otolaryngology
      333 Longwood Ave, Floor 3, 
      Boston, MA 
      Languages Spoken:
      English, Spanish
      Accepting New Patients

      Reza Rahbar is an Otolaryngologist in Boston, Massachusetts. Dr. Rahbar is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Laryngomalacia, Laryngeal Cleft, Larynx Atresia, Myringotomy, and Adenoidectomy. Dr. Rahbar is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Advanced in Koolen De Vries Syndrome

      Children's Orthopaedic Surgery Foundation Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Benjamin Shore is an Orthopedics provider in Boston, Massachusetts. Dr. Shore is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Spastic Diplegia Infantile Type, Legg-Calve-Perthes Disease (LCPD), Toxic Synovitis, Osteotomy, and Rhizotomy. Dr. Shore is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Ophthalmology
      Advanced in Koolen De Vries Syndrome
      Ophthalmology

      Massachusetts Eye And Ear Associates, Inc

      243 Charles St, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Eric Pierce is an Ophthalmologist in Boston, Massachusetts. Dr. Pierce is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Retinopathy Pigmentary Mental Retardation, Retinitis Pigmentosa, Doyne Honeycomb Retinal Dystrophy, and Late-Onset Retinal Degeneration. Dr. Pierce is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Advanced in Koolen De Vries Syndrome

      Massachusetts Eye And Ear Associates, Inc

      243 Charles St, 
      Boston, MA 
      Experience:
      16+ years
      Languages Spoken:
      English
      Accepting New Patients

      Rachel Huckfeldt is an Ophthalmologist in Boston, Massachusetts. Dr. Huckfeldt has been practicing medicine for over 16 years and is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Retinitis Pigmentosa, Usher Syndrome, Late-Onset Retinal Degeneration, and Retinopathy Pigmentary Mental Retardation. Dr. Huckfeldt is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Pediatric Neurology | Pediatrics | Neurology
      Advanced in Koolen De Vries Syndrome
      Pediatric Neurology | Pediatrics | Neurology
      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Siddharth Srivastava is a Pediatric Neurologist and a Pediatrics provider in Boston, Massachusetts. Dr. Srivastava is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Ruvalcaba Syndrome, Autism Spectrum Disorder, Cerebral Palsy, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, and Deep Brain Stimulation. Dr. Srivastava is currently accepting new patients.

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

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Stephanie Sacharow is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sacharow is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Advanced in Koolen De Vries Syndrome

      Massachusetts Eye And Ear Associates, Inc

      243 Charles St, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Pablo Altschwager-Kreft is an Ophthalmologist in Boston, Massachusetts. Dr. Altschwager-Kreft is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Anton Syndrome, Isolated Duane Retraction Syndrome, Amblyopia, Albinism, and Myringotomy. Dr. Altschwager-Kreft is currently accepting new patients.

      Advanced in Koolen De Vries Syndrome
      Urology | Pediatrics
      Advanced in Koolen De Vries Syndrome
      Urology | Pediatrics

      Children's Urological Foundation

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English, Spanish
      Accepting New Patients

      Richard Lee is an Urologist and a Pediatrics provider in Boston, Massachusetts. Dr. Lee is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Exstrophy of the Bladder, UPJ Obstruction, Urinary Tract Infection (UTI), Orchiectomy, and Reconstructive Urology Surgery. Dr. Lee is currently accepting new patients.

      Showing 1-20 of 429

      Last Updated: 10/30/2025

      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 in Massachusetts, 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 Koolen De Vries Syndrome doctor in Massachusetts, 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 Koolen De Vries Syndrome doctors in Massachusetts, 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 Koolen De Vries Syndrome doctors in Massachusetts, 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 Koolen De Vries Syndrome doctor in Massachusetts, 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 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 in Massachusetts, 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 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 in Massachusetts, US?

      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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