Cornelia De Lange Syndrome (CdLS)

Cornelia de Lange syndrome (CdLS) is also known as Brachmann de Lange syndrome, Bushy syndrome, or Amsterdam dwarfism.

It is named after Cornelia Catharina de Lange, a Dutch physician, who first described this condition in 1933. This developmental disorder is generally caused by gene mutation and is typically characterized by thick or long eyebrows, small nose (often with an upturned nasal tip), smooth or long philtrum, and downturned mouth with a thin upper lip.

Individuals with this genetic disorder also have small stature, missing fingers or toes, congenital hernia, intellectual disability, and developmental delays. As this syndrome ranges from moderate to severe, the features may vary widely and some affected individuals have excessive body hair, long eyelashes, low-set ears, unusually small head, and cleft palate. Moreover, a number of people with CdLS present behavioral concerns like that of those with autism; some of them also report other health concerns such as cardiac-related defects, vision and hearing difficulties, and digestive tract complications.

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