Symptoms
Individuals with a 22q11.2 deletion can suffer from many possible features, ranging in number of associated features and from the mild to the very serious. Symptoms shown to be common include:
- Congenital heart disease (40% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and persistent truncus arteriosus)
- palatal abnormalities (50%), particularly velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate; characteristic facial features (present in the majority of Caucasian individuals) including hypertelorism.
- learning difficulties (90%) but broad range
- hypocalcemia (50%)(due to hypoparathyroidism)
- significant feeding problems (30%)
- renal anomalies (37%)
- hearing loss (both conductive and sensorineural) (Hearing loss with craniofacial syndromes)
- laryngotracheoesophageal anomalies
- growth hormone deficiency
- autoimmune disorders
- immune disorders due to reduced T cell numbers
- seizures (with or without hypocalcemia)
- skeletal abnormalities
- psychiatric disorders
Read more about this topic: Di George Syndrome
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