- Gastroesophageal Reflux Disease (GERD) or reflux is an almost universal problem in individuals with CdLS and may be severe
- Symptoms range from occasional vomiting, belching, heartburn to intermittent poor appetite
- If undiagnosed, reflux can lead to problems with pneumonia, esophagitis (irritation of the throat), general irritability and failure to thrive.
- The first symptom may be irritability.
- GERD symptoms, if recognized may be easily managed
- Pyloric stenosis (a narrowing of the valve between the stomach and the intestines) or intestinal malrotation (kinking of the intestines)
- Not as common as GERD
- Surgery is needed
- Most often present in infancy
Other medical issues
- Cardiac defects, found in about 25% of individuals with CdLS may require surgery and close follow-up.
- Radio-ulnar synostosis (a fusion of the forearm bones together) may be present and may limit movement.
- Standard treatment is appropriate for other medical issues (i.e. hearing loss, cardiac defects, seizures).
- Cognitive and communication challenges may make it harder to identify cause of problem.
- Puberty may occur slightly later than in unaffected children.
- Average age is 13 years for females with CdLS
- Average age is 14 years in males wtih CdLS