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Glossary for Morquio syndrome, type B

  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Dwarfism: Short stature. There are several types of dwarfism: acromelic (short hand and foot bones), mesomelic (short forearm and lower leg bones) and rhizomelic (short upper arm and leg bones).
  • Dysostosis: Defective bone development. It can result in missing bones, extra bone, shortened bones or other bone abnormalities. Further symptoms depend on the type of abnormality.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.
  • Hearing loss: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
  • Hydrops fetalis: Abnormal accumulation of fluid in the fetus which can be fatal. Excessive fluid leaves the blood and enters the tissues. It can have non-immune and immune (mother's immune system destroys fetal red blood cells).
  • Hypertrichosis: Hypertrichosis is an overgrowth of hair not localized to the androgen-dependent areas of the skin
  • Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
  • Macroglossia: Abnormally large tongue.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Osteoporosis: Bone thinning and weakening from bone calcium depletion.
  • Restrictive cardiomyopathy: A condition which is characterized by restriction to the function of the walls of the heart
  • Scoliosis: Sideways curvature of the spine
  • Sensorineural hearing loss: Hearing loss due to abnormal functioning or damage to the hearing nerve or the cochlea (inner ear) or the part of the brain that processes sound. The hearing problem may be present at birth or may be acquired through such things as aging, excessive noise or diseases such as meningitis.
  • Swayback: A spinal deformity where the spin curves inward. The condition may be caused by tightness in the lower back muscles, pregnancy and excessive abdominal size or vertebral abnormality. The curvature can be noted as a gap between the lower back and the floor when a person lays face-down on a flat surface.

 

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