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.
Figura 1 | Fenotipo facial de pacientes con SCdL.
a | Fenotipo clásico de Cornelia de Lange por mutación en el gen NIPBL. b | Adulto con mutación en NIPBL y fenotipo clásico. d | Fenotipo no clásico en un paciente con mutación en el gen SMC1A. e | Fenotipo clásico en una paciente con mutación en el gen SMC3. f | Fenotipo no clásico en una paciente con mutación en el gen RAD21. g | Fenotipo no clásico en una paciente con mutación en el gen HDAC8. h | Fenotipo no clásico en una paciente con mutación en el gen ANKRD11.
- 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.
