Signs and Symptoms of the Chromosome 22q11.2 Deletion
The medical problems associated with the chromosome 22q11.2 deletion vary widely. For example, one child with the disorder might have no heart problem, while another child with the same disorder might have a very mild or very severe heart defect.
Children with the chromosome 22q11.2 deletion often have problems that involve many different bodily systems. Here are some of the most common:
- Cardiovascular (heart) defects (which are often discovered the earliest), such as:
- tetralogy of Fallot
- ventricular septal defect
- atrial septal defect
- interrupted aortic arch
- truncus arteriosus
- vascular ring
- Feeding difficulties, which, while a symptom of many other disorders, can be a sign of a chromosome 22q11.2 deletion, as well:
- nasal regurgitation (spitting up through the nose), which may happen because of a cleft palate (one possible problem associated with the disorder)
- repeated bouts of spitting up or vomiting due to esophageal dysmotility
- gastroesophageal reflux (GERD)
- tracheoesophageal fistula
- Gastrointesintal problems, especially:
- mild to severe constipation
- intestinal malrotation (twisting)
- Hirschsprung's disease
- diaphragmatic hernia
- inguinal and umbilical hernia
- Immune system problems, such as:
- recurring ear infections, especially when a child is very young
- wound infections/wounds that won't heal properly
- recurring respiratory infections
- autoimmune diseases, such as juvenile rheumatoid arthritis, ideopathic thrombocytopenia and vitiligo
- Growth problems, sometimes as a result of hormone growth deficiency
- Delayed development, such as:
- mild speech delays
- delay in emergence of language
- delayed motor skills development
- Palatal anomalies, including:
- cleft lip and palate
- cleft palate
- velopharyngeal incompetence
Reviewed by: Donna M. McDonald-McGinn, MS, CGC
Date: May 2004
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