Everything You Need To Know About Cornelia de Lange Syndrome

Symptoms Of CdLS

Though the symptoms of CdLS can differ, common ones affected individuals experience include delayed growth during fetal development and after birth, developmental delays, intellectual disabilities, skeletal abnormalities in the arms and hands, gastrointestinal difficulties, excess hair growth, hearing loss, and nearsightedness. Other potential symptoms include genital abnormalities such as cryptorchidism, as well as congenital heart defects and seizures.

The craniofacial features typically displayed by CdLS patients include microcephaly, where the head’s circumference is smaller than average, synophrys, where arched eyebrows grow together in the middle, small, widely spaced teeth, low-set ears, and a small, upturned nose.

How do doctors go about revealing these symptoms and diagnosing Cornelia de Lange syndrome? Keep reading to find out.