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    Last Updated: 01/09/2026

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    MediFind found 2 doctor with experience in Microphthalmia with Linear Skin Defects Syndrome near Australia. Of these, 2 are Advanced.

    Location
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    2 providers found
      Advanced in Microphthalmia with Linear Skin Defects Syndrome

      John Christodoulou
      Advanced in Microphthalmia with Linear Skin Defects Syndrome

      John Christodoulou
      30 Flemington Road, 
      Parkville, VIC, AU 

      John Christodoulou practices in Parkville, Australia. Mr. Christodoulou is rated as an Advanced expert by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. His top areas of expertise are Rett Syndrome, Perrault Syndrome, Leigh Syndrome, Early Infantile Epileptic Encephalopathy, and Gastrostomy.

      Advanced in Microphthalmia with Linear Skin Defects Syndrome

      Lisa G. Riley
      Advanced in Microphthalmia with Linear Skin Defects Syndrome

      Lisa G. Riley
      Sydney, NSW, AU 

      Lisa Riley practices in Sydney, Australia. Ms. Riley is rated as an Advanced expert by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. Her top areas of expertise are Lactic Acidosis, Sideroblastic Anemia, Perrault Syndrome, and Microphthalmia with Linear Skin Defects Syndrome.

      Learn about our expert tiers
      While we make every effort to provide the best results possible, data is currently limited outside of the United States. Doctors listed may include both clinicians and researchers, and individuals relocate frequently. We recommend contacting doctors directly to confirm their location and areas of focus. Contact information is provided when available. Learn more about our expert tiers.
      Showing 1-2 of 2

      Last Updated: 01/09/2026

      What is the definition of Microphthalmia with Linear Skin Defects Syndrome?

      Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a genetic change in the HCCS gene. In some cases, it may be caused by genetic changes in the COX7B and NDUFB11 genes, (also located on the X chromosome). This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.

      When should I see a Microphthalmia with Linear Skin Defects Syndrome doctor in Australia?

      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 Microphthalmia with Linear Skin Defects Syndrome doctor in Australia?

      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 do I find the best Microphthalmia with Linear Skin Defects Syndrome doctor in Australia?

      You can find a Microphthalmia with Linear Skin Defects Syndrome doctor in any of the 10 largest U.S. cities by clicking below:

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      Microphthalmia with Linear Skin Defects Syndrome doctor near Dallas, TX
      Microphthalmia with Linear Skin Defects Syndrome doctor near San Jose, CA

      How does MediFind rank Microphthalmia with Linear Skin Defects Syndrome doctors in Australia?

      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 Microphthalmia with Linear Skin Defects Syndrome doctors in Australia?

      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 Microphthalmia with Linear Skin Defects Syndrome doctor in Australia?

      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 Microphthalmia with Linear Skin Defects Syndrome doctor search results page. 

      Why is it important to get a second opinion from a different Microphthalmia with Linear Skin Defects 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 Microphthalmia with Linear Skin Defects Syndrome doctor in Australia?

      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 Microphthalmia with Linear Skin Defects 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 Microphthalmia with Linear Skin Defects 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 Microphthalmia with Linear Skin Defects Syndrome doctors in Australia?

      Look for the filter feature on the left side of the Microphthalmia with Linear Skin Defects 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 Microphthalmia with Linear Skin Defects Syndrome doctor that offers video calls?

      Look for the filter feature on the left-side of the Microphthalmia with Linear Skin Defects 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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