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Diseases » Aase syndrome 2 » Glossary
 

Glossary for Aase syndrome 2

  • Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
  • Blood conditions: Conditions that affect the blood
  • Bone conditions: Conditions that affect the bones
  • 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).
  • Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hand conditions: Any condition that affects the hand
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Upper limb conditions: Any medical condition affecting the upper limbs, i.e. the arms, elbows, hands, etc.
  • Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.

 

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