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Diseases » Aase Smith syndrome » Glossary
 

Glossary for Aase Smith syndrome

  • Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Blood conditions: Conditions that affect the blood
  • Bone conditions: Conditions that affect the bones
  • 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
  • Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
  • Hydrocephaly: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Pure red cell aplasia: A rare blood cell disorder where there is a sudden decrease in the number of red blood cells (erythrocytes) produced by the bone marrow.
  • Rheumatic conditions: Any condition that affects ones joints
  • Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.

 

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