Cornelia de Lange syndrome (CdLS) is a genetic disorder that is present at birth. It is characterized by many physical, intellectual, and behavioral differences. Babies with CdLS usually have a lower birth weight, smaller size, and height, and have a smaller head circumference (microcephaly).
Most also have developmental delays that range from mild educational disabilities to severe intellectual disabilities. Anyone wishing to donate to a CdLS patient can click on this link.
Common physical characteristics of CdLS include:
1) Gastroesophageal reflux disease (GERD), which can make eating painful and contribute to slow growth and other intestinal differences;
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2) Similar facial features (which may include an upturned nose, eyebrows that meet in the middle, long eyelashes, and low-set ears);
3) Upper limb differences ranging from small hands to missing fingers or forearms.
Diaphragmatic hernias, excessive body hair (hirsutism), vision and hearing problems, seizures, heart defects, and dental problems are also common. Behavioral problems such as self-harm or attention deficit hyperactivity disorder may also occur.
Causes:
To date, there are different genes that have been identified that result in CdLS when a change (mutation) occurs in one. There is still a small percentage of people with CdLS in whom a change in one of these genes cannot be identified; it is likely that additional causative genes have yet to be identified.
In the majority of cases, the mutation is not inherited, but occurs spontaneously as a new (de novo) change in an egg or sperm or very early in fetal development.