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Glossary for Multiple Sulfatase Deficiency

  • Bone changes: Changes to the bones as a symptom
  • Chest deformity: Malformation or distortion the normal appearance of teh chest.
  • Coarse facial features: The occurrence of coarse feature on ones face
  • 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.
  • Deafness: Inability to hear sounds.
  • Dry skin: Dryness of the skin.
  • 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.
  • Enlarged liver: Swelling of the liver.
  • 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.
  • Ichthyosis: Fish-like scaly dry skin areas
  • Jequier-Deonna Syndrome: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
  • Learning disabilities: Various developmental problems impairing learning or schooling.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
  • Spinal curvature: Various types of curvature of the spine
  • Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
  • Swollen spleen: Swelling or enlargement of the spleen

 

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