NORD gratefully acknowledges Ann E. Van Heest, MD, Professor, Vice-Chair of Education, Residency Program Director, Dept. of Orthopaedic Surgery, University of Minnesota, for assistance in the preparation of this report.
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 (flexed) or straightened (extended) position (contractures). Gordon syndrome is characterized by the permanent fixation of several fingers in a bent 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 individuals, additional abnormalities may also be present. The range and severity of symptoms may vary from one person to another. Intelligence is not affected. Gordon syndrome is caused by alterations (mutations) in the PIEZO2 gene and 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 instances, 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 people, 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 males, one or both of the testes may fail to descend into the scrotum (cryptorchidism). Cognitive development of affected individuals is normal.
Gordon syndrome is caused by an alteration (mutation) in the PIEZO2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.
Gordon syndrome is inherited as an autosomal dominant trait. Most genetic diseases are determined by the status of the two copies of a gene, 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 to cause a particular 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 an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.
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. Two other disorders, Marden-Walker syndrome and distal arthrogryposis 5, are caused by alterations in the PIEZO2 gene.
Gordon syndrome affects males and females in equal numbers. More than 40 people in five families (kindreds) have been reported in the medical literature. In most people, physical features associated with Gordon syndrome are obvious at birth (congenital).
In most people, 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 elbows, forearms, wrists, fingers, as well as the legs. Braces or splints may be used to improve range of motion.
Genetic counseling is recommended for affected individuals and their families. Other treatment is symptomatic and supportive.
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:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Some current clinical trials also are posted on the following page on the NORD website:
For information about clinical trials sponsored by private sources, contact:
For more information about clinical trials conducted in Europe, contact:
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., camptodactyly, cleft palate, etc.].)
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McMillin MJ, Beck AE, Chong JX, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis 5. Am J Hum Genet. 2014;94:734-744. http://www.ncbi.nlm.nih.gov/pubmed/24726473
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Gordon H, Davies D, Berman M. Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomal-dominant pattern of inheritance. J Med Genet. 1969;6:266-74. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468739/
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:114300; Last Update:06/17/2014. Available at: https://www.omim.org/entry/114300?search=114300&highlight=114300 Accessed October 18, 2017.
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