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Pseudoachondroplasia


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Pseudoachondroplasia is an inherited disorder of bone growth. It is a type of short-limb dwarfism that is not discovered until 2 - 3 years of age. Pseudoachondroplasia is usually first detected by a delay in walking or a curious, waddling gait.

Fast Facts:

  • -- The exact prevalence of Pseudoachondroplasia is unknown; it is estimated to occur in 1 in 30,000 individuals.
  • -- The average height of adult males with this condition is 3 feet, 11 inches, and the average height of adult females is 3 feet, 9 inches.
  • -- This condition is inherited. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
  • -- Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood.
  • -- Characteristic features of Pseudoachondroplasia include short arms and legs, a waddling walk, osteoarthritis, and a limited range of motion at the elbows and hips.
  • -- People with Pseudoachondroplasia have normal facial features, head size, and intelligence.

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