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    Wikipedia
    https://en.wikipedia.org › wiki › Gómez–López-Hernández_syndrome

    Gómez–López-Hernández syndrome - Wikipedia

    • Gómez–López-Hernández syndrome (GLH) or cerebellotrigeminal-dermal dysplasia is a rare neurocutaneous (Phakomatosis) disorder affecting the trigeminal nerve and causing several other neural and physical abnormalities. Gómez–López-Hernández syndrome has been diagnosed in only 34 people. Cases of Gómez–López-Hernández syndrome may b… 展开

    Presentation

    Physical characteristics of the syndrome can vary and are not universal. People with Gómez–López … 展开

    Causes

    The exact causes of Gómez–López-Hernández syndrome are currently unknown. Mutations of the ACP2 gene have been implicated but not confirmed. One case of siblings — both with Gómez–López-H… 展开

    Diagnosis

    All cases of Gómez–López-Hernández syndrome present scalp alopecia, varying degrees of low-set ears and most have a flattened skull. Scalp alopecia has been present in all but one case though it can be asymmetrical or… 展开

    Management

    Gómez–López-Hernández syndrome is rare and similar to other developmental disabilities. Management is similar to other developmental disabilities as there is no cure for malformations of the brain. Gómez–López-H… 展开

    Prognosis

    The oldest person who has been diagnosed with Gómez–López-Hernández syndrome was 29 years old at the time of his assessment in 2008. Most people with Gómez–López-Hernández syndrome are consistently low … 展开

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