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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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Your Question

Would the toes being bent down and not wanting to come up be part of this disease? I also have one knee that is in constant pain and doesn't want to lay flat anymore. I was told a few years ago that this disease runs in my family. I haven't mentioned it yet to my family physician as I just remembered it and wanted to get some more info about this disease.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Are abnormalities of the toes and/or knees features of Gordon syndrome?

The distal arthrogryposes (DAs) are collectively characterized by congenital (present at birth) contractures of the distal limbs (arms and/or legs). The major lower limb abnormalities present in the DAs may include clubfoot, calcaneovalgus deformities, a vertical talus and/or metatarsus varus. For Gordon syndrome specifically, at least one individual within each affected family typically has distal limb contractures as well as cleft palate and/or clubfoot.[3][4]

While some descriptions of Gordon syndrome suggest that the distal arthrogryposis in affected individuals may affect the knees, elbows, wrists and/or ankles, we are unaware of reports of specific knee abnormalities in individuals with Gordon syndrome.[2] Toe abnormalities that have been reported in affected individuals include syndactyly (webbing of the fingers and/or toes).[2] We are not aware of reports of other specific abnormalities of the toes in individuals with Gordon syndrome.
Last updated: 12/5/2012

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.[5][6][7]

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

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