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Glossary for Chromosome 22q13 deletion

  • Bulbous nose: A bulbous nose is a nose that is unusually bulged and globular in shape.
  • Developmental problems: Physical or mental development difficulty.
  • Droopy eye-lid: Droopiness of the eyelids (ptosis)
  • Epicanthal folds: Skin folds on the upper eyelid.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Lymphedema: Swelling causes by lymphatic fluid retention
  • Ptosis: Drooping of the eyelids
  • Reduced muscle tone: Reduced muscle tone is a loss of or less than normal amount of muscle tightness.
  • Sacral dimple: Sacral dimple is a dimple or pit in the area of the lower back and upper buttocks.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Speech difficulties: Any difficulties that one may experience in communicating
  • Swollen head: Swollen head or enlarged head size

 

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