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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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What is Gordon syndrome?

What are the signs and symptoms of Gordon syndrome?

How is Gordon syndrome inherited?

What is Gordon syndrome?

Gordon Syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. Intelligence is usually normal. In some cases, additional abnormalities such as scoliosis or undescended testicles in males may be present.[1] The range and severity of symptoms may vary from case to case. Gordon syndrome is thought to be inherited in an autosomal dominant or X-linked dominant manner. The exact cause remains unknown.[1]
Last updated: 12/5/2012

What are the signs and symptoms of Gordon syndrome?

Gordon syndrome belongs to a group of conditions known as the distal arthrogryposes, which are characterized by stiffness and impaired mobility of certain joints of the lower arms and legs including the wrists, elbows, knees and/or ankles. The range and severity of features in affected individuals can vary. Most infants with Gordon syndrome have several fingers that are permanently fixed in a flexed position (camptodactyly), which may result in limited range of motion and compromised manual dexterity. Affected infants may also have clubfoot. Approximately 20-30% have cleft palate (incomplete closure of the roof of the mouth).[2]

Other signs and symptoms in some individuals may include a bifid uvula (abnormal splitting of the soft hanging tissue at the back of the throat); short stature; dislocation of the hip; abnormal backward curvature of the upper spine (lordosis); and/or kyphoscoliosis. In addition, some affected individuals may have drooping of the eyelids (ptosis); epicanthal folds; syndactyly (webbing of the fingers and/or toes); abnormal skin patterns on the hands and feet (dermatoglyphics); and/or a short, webbed neck (pterygium colli). Some affected males have undescended testes (cryptorchidism). Cognitive development is typically normal.[2]
Last updated: 12/3/2012

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.[3][4][5]

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

  1. Gordon syndrome. Orphanet. 2005; Accessed 12/19/2011.
  2. Gordon syndrome. NORD. March 28, 2008; Accessed 12/3/2012.
  3. 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.
  4. Gordon syndrome. Orphanet. February 2005; Accessed 12/4/2012.
  5. Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. July 2009; Suppl 4:40-46.
  6. Gordon syndrome. National Organization for Rare Disorders (NORD). 2003; Accessed 12/19/2011.