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Gordon Syndrome

Synonyms of Gordon Syndrome

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

Disorder Subdivisions

  • No subdivisions found.

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.

Symptoms

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.

Causes

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).

Related Disorders

Symptoms of the following disorders can be similar to those of Gordon syndrome. Comparisons may be useful for a differential diagnosis:

Distal Arthrogryposis Multiplex Congenita, Type II is a very rare inherited disorder that is apparent at birth and is characterized by stiffness and/or impaired mobility of certain joints (contractures) and deformities of bones of the hands and/or feet. Symptoms may include permanent fixation of the fingers in a flexed position (camptodactyly); abnormal positioning of the fingers and/or toes; abnormal inward positioning of the feet (clubfoot or talipes); and/or other malformations of the arms and/or legs. Other features of this disorder may include an impaired ability to completely open the mouth (trismus); underdevelopment of the jaw bone (micrognathia); a receding jaw (retrognathia); an abnormal groove in the upper lip (cleft lip) and/or incomplete closure of the roof of the mouth (cleft palate); droopy eyelids (ptosis); and/or a webbed neck. Affected individuals may also exhibit abnormalities of the bones of the spine (vertebrae) as well as short stature. Distal Arthrogryposis Multiplex Congenita, Type II is thought to be inherited as an autosomal dominant genetic trait.

Aase-Smith syndrome, also known as Aase-Smith syndrome type I, is a rare genetic disorder characterized by joint contractures and cleft palate. Affected infants may also have drooping of the eyelids (ptosis), malformed ears, and thin fingers with no knuckles. Some individuals may developed accumulation of excessive cerebrospinal fluid (CSF) in the skull (hydrocephalus) causing increased pressure on the tissues of the brain (hydrocephalus). Because of the overlap of symptoms associated with Aase-Smith and Gordon syndromes some researchers have speculated that the two disorders are actually one entity. Aase-Smith syndrome is inherited as an autosomal dominant trait.

Beals syndrome is an extremely rare inherited disorder characterized by the permanent fixation of certain joints (e.g., fingers, elbows, knees, and hips) in a flexed position (contractures); abnormally long, slender fingers and toes (arachnodactyly); permanently flexed fingers (camptodactyly); and/or abnormally shaped ears resulting in a "crumpled" appearance. In addition, affected individuals may exhibit front-to-back and side-to-side curvature of the spine (kyphoscoliosis); feet that are abnormally positioned (talipes equinovarus or clubfoot); outward displacement of the fingers (ulnar deviation of the fingers); an abnormally short neck; and/or abnormal displacement of the lens of the eye (ectopia lentis). In some cases, affected individuals may have a slight deformity of a valve on the left side of the heart (mitral valve prolapse) that leads to the left upper chamber of the heart (left atrium). Beals syndrome is thought to be inherited as an autosomal dominant trait. (For more information on this disorder, choose "Beals" as your search term in the Rare Disease Database.)

There are other congenital disorders that may be characterized by physical features and symptoms similar to those associated with Gordon syndrome. These may include other disorders associated with stiffness and impaired mobility involving certain joints (e.g., knees, elbows, wrists, and ankles) of the lower arms and/or legs (distal arthrogryposes). (For more information on these disorders, choose the exact disorder name in question as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
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).

Treatment
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:
www.centerwatch.com

Organizations related to Gordon Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., camptodactyly, cleft palate, etc.].)

References

TEXTBOOKS
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.

JOURNAL ARTICLES
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.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/03/28 00:00:00 GMT+0

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