Skeletal dysplasia: An overview

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Skeletal dysplasia is a term used to describe a group of genetic conditions that cause abnormal formation of bone and cartilage. Growth and other bodily functions may also be affected.

Key points

  • Skeletal dysplasia is a general term used for a genetic condition that primarily affects bone development.
  • A skeletal dysplasia is caused by a variant or variants in a gene important for bone development. The variant(s) can be new or inherited (passed down from parent to child).
  • A skeletal dysplasia can have widespread complications depending on the gene involved.
  • The severity of a specific skeletal dysplasia can vary from person to person.
  • Children with a skeletal dysplasia may be followed by multiple specialists.
Last updated: March 6th 2023