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pmartin1533 pmartin1533
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9 years ago
what are some of the signs and symptoms of Digorge Syndrome?
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rsb
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#1
9 years ago
Individuals with a 22q11.2 deletion ( DiGeorge Syndrome) 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)
- Cyanosis (bluish skin due to poor circulation of oxygen-rich blood)
- Palatal abnormalities (50%)
- Learning difficulties (90%)
- Hypocalcemia (50%)(due to hypoparathyroidism)
- Renal anomalies (37%)
- Hearing loss
- Growth hormone deficiency
wrote...
#2
9 years ago
Certain facial features are often seen with DGS - low set ears, underdeveloped chin, a short philtrum (the vertical groove on the upper lip), a bulbous nose tip, heavy eyelids and/or a small mouth.
Nasal-sounding speech can occur when a cleft palate is involved. Short stature, learning difficulties or certain psychiatric disorders are also common.
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