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About: Cornelia de Lange syndrome     Goto   Sponge   NotDistinct   Permalink

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Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with this syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. The syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. The typical features of CdLS include thick or long eyebrows, a small nose, small stature, developmental delay, long or smooth philtrum, thin upper lip and downturned mouth. The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange, who described it in 1933.