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

This disease is grouped under:

Distal arthrogryposis

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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Camptodactyly of finger	Permanent flexion of the finger	0100490
Talipes		0001883
30%-79% of people have these symptoms
Decreased muscle mass	Underdeveloped muscles	0003199
High palate	Elevated palate Increased palatal height [ more ]	0000218
5%-29% of people have these symptoms
Cleft palate		0000175
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Finger syndactyly		0006101
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Limitation of joint mobility	Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ]	0001376
Ophthalmoplegia	Eye muscle paralysis	0000602
Pectus excavatum	Funnel chest	0000767
Scoliosis	Abnormal curving of the spine	0002650
Short stature	Decreased body height Small stature [ more ]	0004322
Percent of people who have these symptoms is not available through HPO
Abnormality of the rib cage		0001547
Arthrogryposis multiplex congenita		0002804
Autosomal dominant inheritance		0000006
Bifid uvula		0000193
Camptodactyly of toe		0001836
Congenital hip dislocation	Dislocated hip since birth	0001374
Cutaneous finger syndactyly	Webbed fingers Webbed skin of fingers [ more ]	0010554
Decreased hip abduction		0003184
Distal arthrogryposis		0005684
Down-sloping shoulders	Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ]	0200021
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Knee flexion contracture		0006380
Kyphoscoliosis		0002751
Lumbar hyperlordosis		0002938
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Overlapping toe	Overlapping toes Overriding toes [ more ]	0001845
Ptosis	Drooping upper eyelid	0000508
Short neck	Decreased length of neck	0000470
Short phalanx of finger	Short finger bones	0009803
Single transverse palmar crease		0000954
Submucous cleft hard palate		0000176
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Thoracolumbar scoliosis		0002944
Ulnar deviation of the hand or of fingers of the hand		0001193

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

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

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

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 related to 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? We want to hear from you.

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

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

Other Conferences

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

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.