This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Congenital radioulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; people with the condition often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. There are 2 types of radioulnar synostosis: type 1 and type 2. In type 1, the fusion involves 2-6 cm of the area between the radius and ulna bones which is closer to the elbow and the knobby end of the radius that meets the elbow is absent (radial head). In type 2, the fusion is farther from the elbow and there is dislocation of the radial head. Both types result in a limitation of inward roll (pronation) and outward roll (supination) of the forearm, and in type 2 there is also a restriction of extension at the elbow. Congenital radioulnar synostosis is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner. Treatment may be conservative or involve surgery depending on the severity of the abnormality and the range of motion.
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