Digeorge's Syndrome - Symptoms

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

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