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Glossary for Velopharyngeal incompetence

  • Breathing difficulties: Various types of breathing difficulty (dyspnea).
  • Chromosome 22q11 Deletion Spectrum: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Cleft palate: Birth defect of lip and mouth.
  • Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • 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.
  • Enlarged tonsils: Enlargement of the tonsils, which are glands found in the oropharynx.
  • 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)
  • Rapp-Hodgkin syndrome: A rare genetic multi-system disorder characterized by skin, teeth, hair and/or nail abnormalities, reduced ability to sweat and oral clefts.
  • Regurgitation: The backflow of stomach contents and gas from stomach back into oesophagus or mouth
  • Respiratory conditions: Any condition that affects the respiratory system
  • Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
  • Throat disorder:
  • 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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