Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder present from birth. It affects male and females from all races. It causes a range of different physical, cognitive and medical challenges. As with most syndromes there are varying degrees of CdLS, presenting in a number of different ways, with children and adults strongly resembling each other. Typically it is apparent in the face, with long thin eyebrows, long eyelashes, upturned nose, and thin downturned lips.
Most CdLS individuals are smaller in weight and size with smaller heads, slow growth and small stature. They can be quite hairy all over their body, and have smaller hands and feet, along with malformed limbs. There are a lot of other complications such as feeding problems, hearing loss, eyesight impairments, heart defects and other issues.
CdLS is not a one size fits all syndrome, it can affect various genes, resulting in different outcomes for each person who has it. Eva has a variation of CdLS on the SMC1A gene. The largest percentage of mutations occur on the NIPBL gene. There are other genes that can be mutated and further research is being carried out to discover what these might be.