To the Editor.—
The hyperelastic joint disease syndrome is a commonly overlooked disorder. The clinical course of individuals affected by it is underemphasized, and the standard textbooks do not clearly define the condition. Although the disease is presumably of autosomal dominant inheritance and a disorder of collagen metabolism, patients who have it do not have hyperelastic skin or an abnormal mucopolysaccharide metabolism, as in hereditary connective tissue disorders. The syndrome may be a variant of either the Marfan or Ehlers-Danlos syndrome. Orthopedic complaints are found in a high percentage of individuals with hyperelastic joints. Many have a family history of hypermobility. Although some people with severe cases are contortionists, this is not a prerequisite for the diagnosis. The diagnosis is made when an individual can actively touch the flexor or extensor surface of his forearm with his thumb (a movement often associated with subluxation and hypermobility of other finger joints
Gardner RC. The Hyperelastic Joint Disease Syndrome. JAMA. 1976;236(10):1115–1116. doi:10.1001/jama.1976.03270110017010
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: