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
Famous quotes containing the word symptoms:
“There is one great fact, characteristic of this our nineteenth century, a fact which no party dares deny. On the one hand, there have started into life industrial and scientific forces which no epoch of former human history had ever suspected. On the other hand, there exist symptoms of decay, far surpassing the horrors recorded of the latter times of the Roman empire. In our days everything seems pregnant with its contrary.”
—Karl Marx (1818–1883)
“Not being a K.N. [Know-Nothing] I am left as a sort of waif on the political sea with symptoms of a mild sort towards Black Republicanism.”
—Rutherford Birchard Hayes (1822–1893)
“Murderous desire, hatred, distrust are nowadays the accompanying signs of physical illness: so thoroughly have we embodied our moral prejudices.—Perhaps cowardice and pity appear as symptoms of illness in savage ages. Perhaps even virtues might be symptoms.”
—Friedrich Nietzsche (1844–1900)