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Diseases » Edwards Syndrome » Glossary
 

Glossary for Edwards Syndrome

  • Apnea: Cessation of breathing. Apnea can be caused by neurological diseases, strangulation, drugs and airway obstruction.
  • Arthrogryposis: A rare congenital disorder characterized by reduced mobility of joints due to the build up of fibrous tissue in the joint.
  • Autosomal chromosome conditions: Any conditions that are related to any non-sex-determining chromosome
  • Bone conditions: Conditions that affect the bones
  • Cardiac malformation: Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depending on the type of malformation.
  • Chromosome conditions: Various genetic conditions where a chromosome is partially or totally misplaced.
  • 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).
  • Congenital heart disease: Heart defects that a baby is born with.
  • Congenital malformations: Physical body or organ malformations existing at birth
  • Congestive Heart Failure: Inadequate pumping and decline of heart function common in the elderly.
  • Ear symptoms: Symptoms affecting the ear or hearing
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Foot conditions: Any condition that may affect the foot
  • Foot deformity: A alteration of the foot structurally that it doesn't appear as normal
  • Hand conditions: Any condition that affects the hand
  • Head Conditions: Conditions that affect the head
  • Infant Death: The death of an infant
  • Intrauterine Growth Retardation: Slowly growing fetus in the womb during pregnancy
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Low birth weight: When the weight of a new born baby is below average
  • Lung symptoms: Symptoms affecting one or both lungs.
  • Malformed ears: Malformed ears are ears that are deformed.
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Mental retardation -- dysmorphism -- hypogonadism -- diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Microcephaly: Small head circumference
  • Microphthalmia: Abnormally small eyes.
  • Miscarriage: Loss of fetus without human interference
  • Mouth conditions: Any condition that affects the mouth
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Oligohydramnios: A deficiency in the amount of amniotic fluid in the gestational sac during pregnancy
  • Polyhydramnios: Excess amniotic fluid around a fetus in the womb. The condition may occur as a result of gastrointestinal, neurological, lung or other disorders. Mild cases are asymptomatic but more severe cases can result in problems for the mother and the baby.
  • Rigidity: When there is inflexibility or stiffness
  • Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Trisomy conditions: Any condition that is characterised by the occurrence of 3 of the same chromosome in an individuals genetic sequence
  • Webbed neck: occurs in congenital malformations

 

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