Medical / Dietary Needs

What you need to know

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  • 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

  • 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 with CdLS

What you can do

  • The pain from GERD can interfere with appetite, social activities, and sleep.
    • A person with CdLS may show changes in behavior that reflect chronic pain, such as irritability or self-injurious behaviors, but may not be able to verbally report symptoms.
  • People with CdLS, who present with chronic pain that is thought to be related to the GI tract, should undergo a standard acid-reflux evaluation.
    • The treatment for reflux usually consists of special diets, medications, and elevating the torso after eating.
  • If radio-ulnar synostosis (fusion of the forearm bones together) is present, care may be needed with physical therapy and physical activity in order to avoid fractures.
  • It is important to monitor growth, hearing, vision, ear, and kidney issues.
  • Be aware, or ask parents, if the child has a medical alert bracelet.