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Qazi-Markouizos syndrome

  • Overview


    Qazi-Markouizos syndrome is a genetic disorder that can cause physical symptoms and intellectual disability. These symptoms may manifest as weak muscles, delayed development, chronic constipation, and unusual dermatoglyphics. Other disorder characteristics include a narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling. In some cases, individuals with the disorder may also experience cryptorchidism, hypertelorism, and tapered fingers. Additionally, seizures and abnormal electroencephalograph readings may be present. It’s worth noting that no new information about this condition has been published since 1994.

  • Symptoms


    Qazi-Markouizos Syndrome may cause various symptoms, such as abdominal distension, metabolic or homeostatic abnormalities, chronic constipation, drooling, seizures, and more. Other symptoms include abnormal palmar dermatoglyphics, cryptorchidism, dysharmonic delayed bone age, EEG abnormalities, high palate, hypertelorism, long philtrum, muscular hypotonia, narrow palate, open mouth, prominent nasal bridge, severe global developmental delay, and tapered fingers.

    It’s worth noting that this disease may manifest symptoms at different stages of life, ranging from newborns to infants. Furthermore, symptoms may begin in a single age range or during several age ranges. Identifying when the symptoms first appeared is crucial, as this can aid medical professionals in accurate diagnosis.

  • When to see a doctor


    In cases where an individual is experiencing developmental delays, seizures, muscle weakness, abnormal eye movements, difficulty with coordination and balance, or intellectual disability, it is advisable to seek medical consultation for Qazi-Markouizos syndrome. Additionally, if there is a family history of the syndrome or genetic testing yields a positive result, it is essential to consult a healthcare professional. Obtaining a proper diagnosis and developing a management plan can assist in addressing potential complications and enhancing the individual’s quality of life.

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  • Causes


    The reason for the development of Qazi-Markouizos Syndrome is currently unknown.

  • Risk factors


    There are no clearly defined risk factors associated with Qazi-Markouizos Syndrome. It is worth noting that while a risk factor can increase one’s likelihood of developing the condition, it is not a guarantee. The significance of individual risk factors can vary, and the absence of any known risk factors does not preclude the possibility of developing the condition. It is always recommended to consult with a healthcare professional regarding the impact of potential risk factors.

  • Prevention


    There is no known way to prevent Qazi-Markouizos Syndrome since the cause of this disorder is unknown. Despite this, it’s recommended that you undergo regular medical screening, including tests and physical examinations, at intervals to help manage the condition.

  • *Please note that the information provided in the article is for reference purposes only. It is essential to consult a doctor before applying any of the suggestions mentioned.

Content Details

Medical info from National Center for Advancing Translational Sciences and DoveMed, for reference only. Visit Hoan My for better advice.

Last updated on: 19/09/2023