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    Last Updated: 02/22/2026

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    MediFind found 395 doctor with experience in Pena-Shokeir Syndrome Type 2. Of these, 242 are Experienced, 146 are Advanced and 7 are Distinguished.

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    395 providers found
      James W. Shine
      Experienced in Pena-Shokeir Syndrome Type 2
      Family Medicine
      Experienced in Pena-Shokeir Syndrome Type 2
      Family Medicine

      BHMA Inpatient Services- JCCH

      1901 S Shady St, Ste A, 
      Mountain City, TN 
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Shine is rated as an Experienced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Osteoglophonic Dysplasia, Mulibrey Nanism, Wiedemann-Steiner Syndrome, and Dubowitz Syndrome.

      Dana Fletcher
      Advanced in Pena-Shokeir Syndrome Type 2
      Endocrinology
      Advanced in Pena-Shokeir Syndrome Type 2
      Endocrinology

      Doctor's Approach Dermatology & Laser Center PC

      2900 Hannah Blvd Ste 114, 
      East Lansing, MI 
      Languages Spoken:
      English

      Dana Fletcher is an Endocrinologist in East Lansing, Michigan. Dr. Fletcher is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. Her top areas of expertise are Hypothyroidism, Obesity in Children, Cornelia De Lange Syndrome, and Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1).

      Advanced in Pena-Shokeir Syndrome Type 2
      Endocrinology
      Advanced in Pena-Shokeir Syndrome Type 2
      Endocrinology

      Clinical Cancer Center-Froedtert Hospital

      8800 W Doyne Ave, 
      Milwaukee, WI 
      Languages Spoken:
      English
      Offers Telehealth

      Gilbert Fareau is an Endocrinologist in Milwaukee, Wisconsin. Dr. Fareau is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Thyroid Cancer, Papillary Thyroid Cancer, Medullary Thyroid Carcinoma, Anaplastic Thyroid Cancer, and Thyroidectomy.

      Learn about our expert tiers
      Advanced in Pena-Shokeir Syndrome Type 2
      Pediatric Cardiology
      Advanced in Pena-Shokeir Syndrome Type 2
      Pediatric Cardiology

      University Of Minnesota Medical Center Fairview Riverside

      2450 Riverside Ave, 
      Minneapolis, MN 
      Languages Spoken:
      English

      Jamie Lohr is a Pediatric Cardiologist in Minneapolis, Minnesota. Dr. Lohr is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. Her top areas of expertise are Congenital Heart Disease (CHD), Robinow Syndrome, Oculofaciocardiodental Syndrome, and Craniofrontonasal Dysplasia.

      Bhavin Shastri
      Advanced in Pena-Shokeir Syndrome Type 2
      Endocrinology
      Advanced in Pena-Shokeir Syndrome Type 2
      Endocrinology

      Aurora Endocrinology

      N84W16889 Menomonee Ave, 
      Menomonee Falls, WI 
      Languages Spoken:
      English
      Offers Telehealth

      Bhavin Shastri is an Endocrinologist in Menomonee Falls, Wisconsin. Dr. Shastri is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Type 1 Diabetes (T1D), and Cockayne Syndrome.

      Andrew Sakiewicz
      Advanced in Pena-Shokeir Syndrome Type 2
      Advanced in Pena-Shokeir Syndrome Type 2

      West Valley Medical Building

      20455 Lorain Road, 
      Fairview Park, OH 
      Languages Spoken:
      English, German

      Andrew Sakiewicz is a Cardiologist in Fairview Park, Ohio. Dr. Sakiewicz is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Coronary Heart Disease, Angina, Atrial Fibrillation, and Atherosclerosis.

      Chun Lim
      Advanced in Pena-Shokeir Syndrome Type 2
      Neurology
      Advanced in Pena-Shokeir Syndrome Type 2
      Neurology

      BIDMC Department Of Neurology

      330 Brookline Avenue, Kirstein 253, 
      Boston, MA 
      Languages Spoken:
      English
      Offers Telehealth

      Chun Lim is a Neurologist in Boston, Massachusetts. Dr. Lim is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Cerebellar Degeneration, Lewy Body Dementia (LBD), Memory Loss, and Alzheimer's Disease.

      Distinguished in Pena-Shokeir Syndrome Type 2
      Distinguished in Pena-Shokeir Syndrome Type 2
      Strasbourg, FR 

      Vincent Laugel practices in Strasbourg, France. Mr. Laugel is rated as a Distinguished expert by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Cockayne Syndrome Type 1, Cockayne Syndrome, Cockayne Syndrome Type 2, Pena-Shokeir Syndrome Type 2, and Gastrostomy.

      Distinguished in Pena-Shokeir Syndrome Type 2
      Distinguished in Pena-Shokeir Syndrome Type 2

      Cancer Genomics Netherlands, Erasmus MC

      Rotterdam, ZH, NL 

      Nicolaas Jaspers practices in Rotterdam, Netherlands. Mr. Jaspers is rated as a Distinguished expert by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Pena-Shokeir Syndrome Type 2, Xeroderma Pigmentosum, Trichothiodystrophy, and Cockayne Syndrome Type 1.

      Distinguished in Pena-Shokeir Syndrome Type 2
      Distinguished in Pena-Shokeir Syndrome Type 2
      Utrecht, UT, NL 

      Jan Hoeijmakers practices in Utrecht, Netherlands. Hoeijmakers is rated as a Distinguished expert by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. Their top areas of expertise are Cockayne Syndrome Type 1, Cockayne Syndrome, Xeroderma Pigmentosum, and Pena-Shokeir Syndrome Type 2.

      Distinguished in Pena-Shokeir Syndrome Type 2
      Medical Genetics
      Distinguished in Pena-Shokeir Syndrome Type 2
      Medical Genetics
      1600 Sw Archer Rd, 
      Gainesville, FL 
      Languages Spoken:
      English
      Accepting New Patients

      Daniel Driscoll is a Medical Genetics provider in Gainesville, Florida. Dr. Driscoll is rated as a Distinguished provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Prader-Willi Syndrome, SHORT Syndrome, GEMSS Syndrome, and Dubowitz Syndrome. Dr. Driscoll is currently accepting new patients.

      Distinguished in Pena-Shokeir Syndrome Type 2
      Endocrinology
      Distinguished in Pena-Shokeir Syndrome Type 2
      Endocrinology

      Tufts Medical Center

      800 Washington St, 
      Boston, MA 
      Languages Spoken:
      English
      Offers Telehealth

      Ronald Lechan is an Endocrinologist in Boston, Massachusetts. Dr. Lechan is rated as a Distinguished provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Pituitary Tumor, Prolactinoma, Pena-Shokeir Syndrome Type 2, and Prader-Willi Syndrome.

      Distinguished in Pena-Shokeir Syndrome Type 2
      Distinguished in Pena-Shokeir Syndrome Type 2
      Pavia, IT 

      Fabio Sirchia practices in Pavia, Italy. Mr. Sirchia is rated as a Distinguished expert by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Horseshoe Kidney, Pena-Shokeir Syndrome Type 2, Microcephaly, and Achalasia Microcephaly Syndrome.

      Distinguished in Pena-Shokeir Syndrome Type 2
      Medical Genetics | Neurology
      Distinguished in Pena-Shokeir Syndrome Type 2
      Medical Genetics | Neurology

      The Association Of University Physicians

      1701 Columbia Rd, 
      Seattle, WA 
      Languages Spoken:
      English
      Offers Telehealth

      Fuki Hisama is a Medical Genetics specialist and a Neurologist in Seattle, Washington. Dr. Hisama is rated as a Distinguished provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. Her top areas of expertise are Werner Syndrome, Cockayne Syndrome, Coffin-Siris Syndrome, and Cornelia De Lange Syndrome.

      Advanced in Pena-Shokeir Syndrome Type 2
      Pediatric Endocrinology
      Advanced in Pena-Shokeir Syndrome Type 2
      Pediatric Endocrinology

      University Of Texas Medical Branch

      301 University Blvd, 
      Galveston, TX 
      Languages Spoken:
      English

      Phillip Lee is a Pediatric Endocrinologist in Galveston, Texas. Dr. Lee is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Prader-Willi Syndrome, Meier-Gorlin Syndrome, Pena-Shokeir Syndrome Type 2, and Coffin-Siris Syndrome.

      Advanced in Pena-Shokeir Syndrome Type 2
      Family Medicine
      Advanced in Pena-Shokeir Syndrome Type 2
      Family Medicine

      San Joaquin Prime Care Medical

      330 E Pine St, 
      Exeter, CA 
      Languages Spoken:
      English

      Stefan Pentschev is a primary care provider, practicing in Family Medicine in Exeter, California. Dr. Pentschev is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Type 2 Diabetes (T2D), Chronic Pain, Hypertension, and Familial Hypertension.

      Advanced in Pena-Shokeir Syndrome Type 2
      Advanced in Pena-Shokeir Syndrome Type 2

      Office

      1301 River St Ste 201, 
      Valatie,, NY 
      Languages Spoken:
      English

      Princewill Ogbuji is a Cardiologist in Valatie,, New York. Dr. Ogbuji is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Coronary Heart Disease, Atherosclerosis, Idiopathic Edema, and Angina.

      Advanced in Pena-Shokeir Syndrome Type 2
      Advanced in Pena-Shokeir Syndrome Type 2

      University Of Kansas Hospital Transplant Center

      3901 Rainbow Blvd, 
      Kansas City, KS 
      Languages Spoken:
      English

      Kevin Mulhern is a Cardiologist in Kansas City, Kansas. Dr. Mulhern is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Familial Progressive Cardiac Conduction Defect, Tetralogy of Fallot, Atrial Fibrillation, Cardiac Ablation, and Pacemaker Implantation.

      Advanced in Pena-Shokeir Syndrome Type 2
      Endocrinology
      Advanced in Pena-Shokeir Syndrome Type 2
      Endocrinology

      Essentia Health-Duluth Clinic 2nd Street (Building C)

      502 E 2nd St, 
      Duluth, MN 
      Languages Spoken:
      English
      Offers Telehealth

      Nahi Kiblawi is an Endocrinologist in Duluth, Minnesota. Dr. Kiblawi is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Klinefelter Syndrome, Hyperparathyroidism, Obesity in Children, and Addison's Disease.

      Advanced in Pena-Shokeir Syndrome Type 2
      Family Medicine
      Advanced in Pena-Shokeir Syndrome Type 2
      Family Medicine

      Office

      1000 Immokalee Rd Ste 90, 
      Naples, FL 
      Languages Spoken:
      English

      Martin Klein is a primary care provider, practicing in Family Medicine in Naples, Florida. Dr. Klein is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Asthma, Wiedemann-Steiner Syndrome, Campomelic Dysplasia, and Sjogren-Larsson Syndrome.

      Showing 1-20 of 395

      Last Updated: 02/22/2026

      What is the definition of Pena-Shokeir Syndrome Type 2?

      Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord. Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements. Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size (microcephaly), and a small jaw (micrognathia). They may also have abnormalities of the skull, limbs, heart, and kidneys. Individuals with COFS syndrome are often diagnosed at birth. In many cases, the cause of the disorder is unknown. Some children with this condition have genetic changes in the ERCC1, ERCC2, ERCC5, or ERCC6 gene. COFS syndrome is inherited in an autosomal recessive manner.

      When should I see a Pena-Shokeir Syndrome Type 2 doctor near me?

      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 Pena-Shokeir Syndrome Type 2 doctor near me?

      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 Pena-Shokeir Syndrome Type 2 doctors near me?

      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 Pena-Shokeir Syndrome Type 2 doctors near me?

      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 Pena-Shokeir Syndrome Type 2 doctor near me?

      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 Pena-Shokeir Syndrome Type 2 doctor search results page. 

      Why is it important to get a second opinion from a different Pena-Shokeir Syndrome Type 2 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 Pena-Shokeir Syndrome Type 2 doctor near me?

      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 Pena-Shokeir Syndrome Type 2 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 Pena-Shokeir Syndrome Type 2 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 Pena-Shokeir Syndrome Type 2 doctors near me?

      Look for the filter feature on the left side of the Pena-Shokeir Syndrome Type 2 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 Pena-Shokeir Syndrome Type 2 doctor that offers video calls?

      Look for the filter feature on the left-side of the Pena-Shokeir Syndrome Type 2 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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