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Diseases » Aberrant subclavian artery abnormality » Glossary

Glossary for Aberrant subclavian artery abnormality

Airway obstruction: A blockage in the breathing tubes. The blockage can occur for many different reasons such as tumors, severe allergic reaction, bacterial infections, foreign bodies or trauma. The degree of obstruction will determine how seriously breathing is impaired.
Apnea: Cessation of breathing. Apnea can be caused by neurological diseases, strangulation, drugs and airway obstruction.
Cyanosis: Blueness or purple coloring of skin.
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.
Harrod Doman Keele syndrome: A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities.
Hoarse: Hoarseness or loss of voice
Recurring infection:
Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
Stridor: A harsh high pitched breath sound
Swallowing difficulty: Difficulty or pain when swallowing
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.