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[Van der Woude's syndrome]

M Nungaray, R Fragoso, A Hernández

    Boletin Medico Del Hospital Infantil De Mexico
    |January 1, 1980
    PubMed
    Summary
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    Van der Woude syndrome, a condition causing cleft lip/palate and lower lip pits, appears to be inherited in an autosomal dominant pattern. Genetic counseling is informed by incomplete penetrance and variable expressivity observed in affected families.

    Area of Science:

    • Genetics
    • Medical Genetics
    • Human Genetics

    Background:

    • Van der Woude syndrome is a congenital disorder characterized by cleft lip and/or palate combined with lower lip pits.
    • Understanding the inheritance patterns of rare genetic disorders is crucial for diagnosis and family planning.

    Observation:

    • This study describes seven males and seven females from three families exhibiting cleft lip-palate and congenital lower-lip pits (Van der Woude syndrome).
    • Clinical observations highlight the presence of the syndrome across multiple generations within these families.

    Findings:

    • An autosomal dominant inheritance pattern was found to be compatible with the observed cases across the three families.
    • The study analyzes the incomplete penetrance and variable expressivity associated with Van der Woude syndrome.

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  • Empirical recurrence risks for this disorder have been established and are discussed in the context of genetic counseling.

    • Implications:

    • The findings support an autosomal dominant mode of inheritance for Van der Woude syndrome, aiding in genetic risk assessment.
    • Understanding variable expressivity and incomplete penetrance is essential for accurate genetic counseling and patient management.
    • This research contributes to the knowledge base for genetic counseling regarding cleft lip-palate and related congenital anomalies.