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Kniest Dysplasia

Abstract

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Synonyms of Kniest Dysplasia

  • Kniest chondrodystrophy
  • Kniest Syndrome
  • Metatropic dwarfism, type II
  • Metatropic dysplasia, type II
  • Swiss Cheese Cartilage Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal development of bones and other connective tissue. Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to a variety of dwarfing conditions known as skeletal dysplasias.

Some of the signs and symptoms of Kniest dysplasia, such as short stature, enlarged knees, and cleft palate, are usually present at birth. Other characteristics may not appear for two or three years.

Organizations related to Kniest Dysplasia

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