CdLS in brief
Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder. There are several features by which you can recognize CdLS:
- The child is smaller and (sometimes much) lighter than average.
- The child often has long eyelashes, eyebrows, and a short nose.
- Sometimes there are abnormalities in the arm, hand, or fingers.
- The child is usually very hairy, especially on the back.
Fig. 1 | Facial phenotype of individuals with Cornelia de Lange Syndrome.
a | Classic Cornelia de Lange Syndrome (CdLS) phenotype resulting from an NIPBL variant. b | Non-classic CdLS phenotype in an individual with an NIPBL variant. c | Adult with NIPBL variant and classic phenotype. d | Non-classic phenotype in individual with an SMC1A variant. e | Classic phenotype in an individual with an SMC3 variant. f | Non-classic phenotype in an individual with a RAD21 variant. g | Non-classic phenotype in an individual with an HDAC8 variant. h | Non-classic phenotype in an individual with an ANKRD11 variant.
- What does this diagnosis mean?
Children with CdLS are different from other children. They are more likely to have gastrointestinal (GI) problems, called esophageal reflux. Almost all children with CdLS have this problem. Always ask your doctor to look at this.
Children with CdLS develop more slowly than their peers and usually have a cognitive disability. In addition, they often have difficulty communicating.
Everything will be different, but how different? There is little to say for sure about this. You will have to wait and see. In the meantime, try to enjoy your sweet, unique child.
