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Glossary for Velopharyngeal insufficiency

  • 46,XY chromosome 7 deletion p14-p14: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Breathing difficulties: Various types of breathing difficulty (dyspnea).
  • Chromosome 22q11.2 microduplication: A rare chromosomal disorder where a part of the chromosome 22 genetic material at the q11.2 location is duplicated resulting in various anomalies ranging from mild to severe amongst different patients.
  • Cleft palate: Birth defect of lip and mouth.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Digestive Diseases: Diseases that affect the digestive system
  • Dysarthria: Dysarthria is a motor speech disorder characterized by difficulty forming and expressing words that is the result of injury to or pathology of the nervous system.
  • Mouth conditions: Any condition that affects the mouth
  • Muscle paralysis: The inability to use a muscle
  • Nerve damage: Any damage which occurs to a nerve altering its structure or function
  • Poor feeding: Poor feeding (mostly in infants)
  • Regurgitation: The backflow of stomach contents and gas from stomach back into oesophagus or mouth
  • Respiratory conditions: Any condition that affects the respiratory system
  • Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.

 

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