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Glossary for Saethre-Chotzen Syndrome

  • Blepharoptosis: Droopy upper eyelid. The condition may be caused by such things as stroke, brain tumor, diabetes and myasthenia gravis.
  • 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).
  • Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
  • Foot conditions: Any condition that may affect the foot
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hand conditions: Any condition that affects the hand
  • Head Conditions: Conditions that affect the head
  • High arched palate: A condition where the roof of the mouth is higher in the mouth than normal.
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Ptosis: Drooping of the eyelids
  • Skull symptoms: Symptoms affecting the skull surrounding the brain.
  • Syndactyly: Fusion of one or more fingers or toes. The digits may be joined simply by skin or the actual bones may be fused. The fusion may involve the whole digit or only a portion of it.

 

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