Gordon Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Gordon Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Arthrogryposis Multiplex Congenita, Distal, Type IIA
  • Camptodactyly-Cleft Palate-Clubfoot
  • Distal Arthrogryposis, Type IIA

Disorder Subdivisions

  • None

General Discussion

Gordon syndrome is an extremely rare disorder that belongs to a group of genetic disorders known as the distal arthrogryposes. These disorders typically involve stiffness and impaired mobility of certain joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles. These joints tend to be permanently fixed in a bent or flexed position (contractures). Gordon syndrome is characterized by the permanent fixation of several fingers in a flexed position (camptodactyly), abnormal bending inward of the foot (clubfoot or talipes), and, less frequently, incomplete closure of the roof of the mouth (cleft palate). In some cases, additional abnormalities may also be present. The range and severity of symptoms may vary from case to case. Gordon syndrome is inherited as an autosomal dominant trait.


Gordon syndrome is characterized by stiffness and impaired mobility of certain joints of the arms and legs (distal arthrogryposis) including the knees, elbows, wrists, and/or ankles. In most infants with this disorder, several fingers may be permanently fixed in a flexed position (camptodactyly), which may result in limitations in range of motion and manual dexterity. In addition, affected infants may exhibit abnormal bending inward of the foot (clubfoot or talipes). In severe cases, infants with Gordon syndrome may experience delays in walking.

Approximately 20-30 percent of affected infants also exhibit incomplete closure of the roof of the mouth (cleft palate). Severe malformation of the palate may lead to difficulty in speaking. In addition, in some cases, a soft-tissue structure at the back of the throat (uvula) may be abnormally split (bifid).

In some affected individuals, additional findings have occurred in association with Gordon syndrome and may, in fact, be part of the syndrome. Such additional findings may include short stature, dislocation of the hip, abnormal backward curvature of the upper spine (lordosis), and/or abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis). In addition, some affected individuals may exhibit drooping of the eyelids (ptosis); an extra fold of skin on either side of the nose that may cover the eyes' inner corners (epicanthal folds); mild webbing of the fingers and/or toes (syndactyly); abnormal skin ridge patterns on the hands and feet (dermatoglyphics); and/or a short, webbed neck (pterygium colli). In some cases, one or both of the testes of affected males may fail to descend into the scrotum (cryptorchidism). Cognitive development of affected individuals is normal.


Gordon syndrome is inherited as an autosomal dominant trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

The symptoms associated with Gordon syndrome may vary greatly among affected individuals (variable expressivity). Females seem to be more likely to have a less severe form of the disorder (incomplete penetrance) or to exhibit no symptoms associated with the disorder (asymptomatic) although they carry the disease gene.

Affected Populations

Gordon syndrome affects males and females in equal numbers. More than 40 cases in five families (kindreds) have been reported in the medical literature. In most cases, physical features associated with Gordon syndrome are obvious at birth (congenital).

Standard Therapies


In most cases, Gordon syndrome is diagnosed at birth by a thorough clinical evaluation and the identification of characteristic physical findings. Many of the physical features associated with Gordon syndrome (e.g., camptodactyly, clubfoot, and/or cleft palate) are obvious at birth (congenital).


The treatment of Gordon syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, speech pathologists, physical therapists, and other health care professionals may need to systematically and comprehensively plan an affected child's treatment.

Surgery may be performed to help correct certain physical abnormalities such as clubfoot and camptodactyly. In addition, reconstructive surgery can help correct facial deformities such as cleft palate. Physical therapy may help to increase the range of motion in the fingers and the legs.

Genetic counseling will be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:




Vincent A and Stewart H. Gordon Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:199-200.

Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W. B. Saunders Co: 1997:476.

Gorlin RJ, et al., eds. Syndromes of the Head and Neck, 3rd ed. New York, NY: Oxford University Press; 1990:762.

Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:256-57.


Becker K, Splitt M. A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. Clin Dysmorphol. 2001:1041-45.

Courtens W, et al. New syndrome or severe expression of Gordon syndrome? A case report. Clin Dysmorphol. 1997;6:39-44.

Ioan DM, et al. Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. Clin Genet. 1993;43:300-02.

Hall JG, et al. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Am J Med Genet. 1982;11:185-239.

Robinow M, et al. The Gordon syndrome: autosomal dominant cleft palate, camptodactyly, and club feet. Am J Med Genet. 1981;9:139-46.

Say B. The Gordon syndrome [letter]. J Med Genet. 1980;17:405.

Halal F, et al. Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree. J Med Genet. 1979;16:149-50.

Gordon H, et al. Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomal-dominant pattern of inheritance. J Med Genet. 1969;6:266-74.


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For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.