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Related Experiment Videos

Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

S L Greene, V V Michels, J A Doyle

    American Journal of Medical Genetics
    |May 1, 1987
    PubMed
    Summary
    This summary is machine-generated.

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    Hay-Wells syndrome, a rare ectodermal dysplasia, presents with hair, nail, and palate abnormalities. This report details two new cases, expanding understanding of this congenital condition.

    Area of Science:

    • Genetics and rare diseases
    • Dermatology
    • Pediatric syndromes

    Background:

    • Ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells) syndrome is a rare autosomal dominant congenital ectodermal dysplasia.
    • Characterized by specific physical anomalies including hair, nail, ocular, and orofacial defects.
    • Previously, 12 cases were reported, with diagnostic questions for three.

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