Cornelia de Lange Syndrome
Cornelia de Lange Syndrome is caused by several different gene mutations that are thought to be sporadic and typically not predictably inherited. It causes a wide range of characteristics, appearing to stem from one basic problem- the effect of the mutation on cohesion, a protein that controls and stabilizes chromosome segregation in cell cycles.
Those with CdLS often share facial features including bushy eyebrows that meet in the middle, long eyelashes, a short, upturned nose, and thin, downturned lips. Physical ailments can include mental impairment, small stature, gastro-esophageal reflux disease, heart defects, malformed hands and feet, seizures, vision problems, hearing loss, and disproportionate or even missing limbs.
CdLS is separated into two categories: Type 1 is the classical presentation and Type 2 is a mild form. With the proper treatments that target critical symptoms and any necessary support, people with Cornelia de Lange Syndrome can easily live a happy life into adulthood.