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Diseases

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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Inheritance


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How is congenital radio-ulnar synostosis inherited?

Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases.[1][2] This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated gene may occur for the first time in an affected individual, or it may be inherited from an affected parent. Each child of an individual with an autosomal dominant condition has a 50% (1 in 2) risk to inherit the mutated copy of the gene.

Congenital radio-ulnar synostosis may also occur with a variety of other abnormalities and may be associated with a chromosome abnormality or genetic syndrome. In these cases, the inheritance pattern may depend upon that of the underlying genetic abnormality. Some genetic abnormalities that have been reported in association with this condition include Apert syndrome, Carpenter syndrome, arthrogryposis, Treacher Collins syndrome, Williams syndrome, Klinefelter syndrome, and Holt-Oram syndrome.[1]

Congenital radio-ulnar synostosis may also occur sporadically as an isolated abnormality, in which case the cause may be unknown.
Last updated: 9/24/2012

References
  1. Raymond Wurapa. Radial-Ulnar Synostosis . Medscape Reference. February 17, 2012; http://emedicine.medscape.com/article/1240467-overview#a0101. Accessed 9/24/2012.
  2. RADIOULNAR SYNOSTOSIS. OMIM. May 4, 2009; http://omim.org/entry/179300. Accessed 9/24/2012.