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Genetic and Rare Diseases Information Center (GARD)

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Congenital radio-ulnar synostosis

Other Names for this Disease
  • Radial-ulnar synostosis
  • Radio-ulnar synostosis
  • Radioulnar synostosis
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What causes congenital radio-ulnar synostosis?

Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be associated with various other skeletal, cardiac (heart), neurologic, or gastrointestinal abnormalities. When other abnormalities are present, the condition may be due to an underlying genetic cause, including a variety of syndromes or chromosome abnormalities.[1][2]

In some cases, congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner.[1] In an article published in 2000, the authors found that autosomal dominant radio-ulnar synostosis with amegakaryocytic thrombocytopenia was caused by mutations in the HOXA11 gene in 2 families.[2]
Last updated: 9/24/2012

  1. Raymond Wurapa. Radial-Ulnar Synostosis . Medscape Reference. February 17, 2012; Accessed 9/24/2012.
  2. RADIOULNAR SYNOSTOSIS. OMIM. May 4, 2009; Accessed 9/24/2012.