Gordon syndrome

Title

Other Names:

Arthrogryposis distal type 3; Distal arthrogryposis type 3; DA3; Arthrogryposis distal type 3; Distal arthrogryposis type 3; DA3; Camptodactyly, cleft palate, and clubfoot See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases

Summary Summary

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

Symptoms Symptoms

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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Camptodactyly of finger	Very frequent (present in 80%-99% of cases)
Talipes	Very frequent (present in 80%-99% of cases)
Decreased muscle mass	Frequent (present in 30%-79% of cases)
High palate	Frequent (present in 30%-79% of cases)
Clinodactyly of the 5th finger	Occasional (present in 5%-29% of cases)
Cryptorchidism	Occasional (present in 5%-29% of cases)
Facial asymmetry	Occasional (present in 5%-29% of cases)
Finger syndactyly	Occasional (present in 5%-29% of cases)
Hearing impairment	Occasional (present in 5%-29% of cases)
Limitation of joint mobility	Occasional (present in 5%-29% of cases)
Ophthalmoplegia	Occasional (present in 5%-29% of cases)
Pectus excavatum	Occasional (present in 5%-29% of cases)
Scoliosis	Occasional (present in 5%-29% of cases)
Abnormality of the rib cage	-
Autosomal dominant inheritance	-
Bifid uvula	-
Camptodactyly of toe	-
Congenital hip dislocation	-
Cutaneous finger syndactyly	-
Decreased hip abduction	-
Distal arthrogryposis	-
Down-sloping shoulders	-
Epicanthus	-
Knee flexion contracture	-
Kyphoscoliosis	-
Lumbar hyperlordosis	-
Micrognathia	-
Overlapping toe	-
Ptosis	-
Short neck	-
Short phalanx of finger	-
Single transverse palmar crease	-
Submucous cleft hard palate	-
Talipes equinovarus	-
Thoracolumbar scoliosis	-
Ulnar deviation of the hand or of fingers of the hand	-

Last updated: 9/1/2017

Inheritance Inheritance

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

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
ClinicalTrials.gov lists trials that are studying or have studied Gordon syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

A National Support group for Arthrogryposis Multiplex Congenita (AVENUES)
P.O. Box 5192
Sonora, CA 95370
E-mail: info@avenuesforamc.com
Website: http://www.avenuesforamc.com
Arthrogryposis Multiplex Congenita Support Inc.
P.O. Box 6291
Spartanburg, SC 29304
E-mail: bod@amcsupport.org
Website: http://www.amcsupport.org
The Arthrogryposis Group
45 Milton Road
Hanwell, London, W7 1LQ United Kingdom
Telephone: 07508 679351
E-mail: help@arthrogryposis.co.uk
Website: http://www.arthrogryposis.co.uk/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Gordon syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

Other Conferences

4th Annual AMC Support Convention
July 16 - July 19, 2009
Philadelphia, PA
Web site to learn more: http://www.amcsupport.org/pa

Related Diseases Related Diseases

The following diseases are related to Gordon syndrome. If you have a question about any of these diseases, you can contact GARD.

Distal arthrogryposis

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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. See answer

Have a question? Contact a GARD Information Specialist.

References References

Gordon syndrome. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376. Accessed 12/19/2011.
Gordon syndrome. NORD. March 28, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/507/viewAbstract. Accessed 12/3/2012.
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.
Gordon syndrome. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376. Accessed 12/4/2012.
Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. July 2009; Suppl 4:40-46.
Gordon syndrome. National Organization for Rare Disorders (NORD). 2003; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/507/viewAbstract. Accessed 12/19/2011.