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Glossary for Acrocephalosyndactyly Syndrome type 5

  • Bone conditions: Conditions that affect the bones
  • Broad thumbs: Broad thumbs refers to thumbs that are wider and bigger than usual.
  • Bulging eyes: Bulging or protruding eyes
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • 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
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Pfeiffer syndrome: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Polydactyly: A rare deformity where the hands and/or feet have extra digits.
  • Short toes: Short toes are toes that are unusually short.
  • 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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