What is Cornelia de Lange Syndrome ?
Cornelia de Lange is named after Dr. Cornelia de Lange who first described this syndrome in 1933. CdLS is a congenital syndrome, meaning it is present at birth. The gene that causes CdLS was discovered in 2004.
As with other syndromes, individuals with CdLS strongly resemble one another.
Common characteristics include: low birth weight, slow growth, small stature, and small head size. Typical facial features include thin eyebrows which frequently meet at the midline, long eyelashes, short upturned nose and thin, down-turned lips.
Other frequent characteristics include: excessive body hair, small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, developmental delays and limb differences (including missing limbs). Also common is absent or delayed speech, hearing abnormalities and vision problems. Sixty to seventy percent of individuals display some degree of autism spectrum disorder.
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