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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Gordon syndrome


Other Names for this Disease
  • Arthrogryposis distal type 3
  • Arthrogryposis multiplex congenita distal type 2a
  • Camptodactyly, cleft palate, and clubfoot
  • DA3
  • Distal arthrogryposis type 3
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Inheritance


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How is Gordon syndrome inherited?

While some reports suggest Gordon syndrome may be inherited in an X-linked dominant manner, most agree that it is inherited in an autosomal dominant manner with reduced expressivity and incomplete penetrance in females.[1][2][3]

In autosomal dominant inheritance, having only one mutated copy of the disease-causing gene in each cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.

If a condition shows variable or reduced expressivity, it means that there can be a range in the nature and severity of signs and symptoms among affected individuals. Incomplete penetrance means that a portion of the individuals who carry the mutated copy of the disease-causing gene will not have any features of the condition.
Last updated: 12/5/2012

References
  1. Ioan DM, Belengeanu V, Maximilian C, Fryns JP. Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. Clin Genet. June 1993; 43(6):300-302.
  2. Gordon syndrome. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376. Accessed 12/4/2012.
  3. Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. July 2009; Suppl 4:40-46.