The 20 Best Microphthalmia with Linear Skin Defects Syndrome Doctors in Portugal

Find the Top Microphthalmia with Linear Skin Defects Syndrome Experts and Specialists

Last Updated: 06/30/2026

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

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2 providers found
    Advanced in Microphthalmia with Linear Skin Defects Syndrome

    Catarina M. Machado
    Advanced in Microphthalmia with Linear Skin Defects Syndrome

    Catarina M. Machado
    Referral may be required
    Braga, PT 

    Catarina Machado practices practicing medicine in Braga, Portugal. Ms. Machado is rated as an Advanced expert by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Microphthalmia with Linear Skin Defects Syndrome, Hypoaldosteronism, Hypothyroidism, and Hyperthyroidism.

    Advanced in Microphthalmia with Linear Skin Defects Syndrome

    Ines E. Oliveira
    Advanced in Microphthalmia with Linear Skin Defects Syndrome

    Ines E. Oliveira
    Referral may be required
    Penafiel, PT 

    Ines Oliveira practices practicing medicine in Penafiel, Portugal. Ms. Oliveira is rated as an Advanced expert by MediFind in the treatment of Microphthalmia with Linear Skin Defects Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Microphthalmia with Linear Skin Defects Syndrome, Coronary Artery Fistula, Periorbital Cellulitis, and Infective Endocarditis.

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    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.
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    Last Updated: 06/30/2026

    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.
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