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Apert's syndrome: (acrocephalosyndactylism)

J L Meyer

    The Journal of Foot Surgery
    |January 1, 1981
    PubMed

    Insights

    Apert

    Area of Science:

    • Medical Genetics
    • Clinical Medicine
    • Pediatrics

    Background:

    • Apert's syndrome is a rare genetic disorder affecting approximately 1 in 160,000 newborns.
    • It is characterized by premature fusion of skull bones and distinctive hand and foot deformities.
    • Increased parental age is a known risk factor for Apert's syndrome.

    Observation:

    • This case history details the clinical and radiographic presentation of a patient with Apert's syndrome.
    • The patient exhibited typical hand and foot malformations, including syndactyly.
    • Despite deformities, the patient demonstrated functional abilities like legible handwriting and pincer grasp without surgical intervention.

    Findings:

    • Apert's syndrome diagnosis requires differentiating it from phenotypically similar conditions like Carpenter's syndrome and LMBB syndrome.
    • Hand deformities in Apert's syndrome can impact daily function, but surgical correction is not always necessary if function is adequate.
    • Foot malformations in Apert's syndrome are congenital and may require surgical intervention for pressure relief in weight-bearing areas.

    Implications:

    • Understanding the phenotypic overlap between Apert's syndrome and similar conditions is crucial for accurate diagnosis.
    • Individualized treatment approaches are necessary, considering functional capacity and psychological status.
    • Management of Apert's syndrome involves addressing both skeletal malformations and their impact on patient function and quality of life.

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