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Diseases » Truncus Arteriosus » Glossary
 

Glossary for Truncus Arteriosus

  • Chest conditions: Any condition affecting the chest
  • Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Circulatory system conditions: Medical conditions affecting the heart and the circulatory system.
  • Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly: A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations.
  • 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).
  • Congestive heart failure: Inadequate pumping and decline of heart function common in the elderly.
  • Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • 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.
  • Dup (2) (pter-p13) and del (5) (pter-p15): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case (fetus). The manifestations linked to most genetic defects are often variable to some degree.
  • Excessive sweating: A condition which is characterized by an abnormal excess of sweating
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Heart conditions: Any condition that affects the heart
  • Poor feeding: Poor feeding (mostly in infants)
  • Rapid breathing: Excessively rapid breathing
  • Rapid heart beat: Excessively rapid heart beat.
  • Respiratory conditions: Any condition that affects the respiratory system
  • Saito-Kuba-Tsuruta syndrome: A very rare syndrome characterized by kidney abnormalities and an abnormal calf bone or forearm bone (ulna). Only a few cases of the syndrome have been reported.
  • 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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