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Glossary for Chromosome 18 deletion syndrome

  • Chromosome 18q- Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Conductive deafness: Any hearing loss or impairment caused by a defect in part of the ear that conducts sound.
  • Coordination problems: Symptoms affecting physical coordination.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Nystagmus: Involuntary jerky eye movements
  • Reduced muscle tone: Reduced muscle tone is a loss of or less than normal amount of muscle tightness.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Short stature: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.
  • Small head: The occurrence of a head which is smaller than normal

 

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