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 disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis. People with this disorder can be born with several fingers fixed in a flexed position (camptodactyly), clubfoot, and an opening in the roof of the mouth (cleft palate). Their joints are often very stiff or unable to move. Intelligence is usually normal.^[1]^[2] The range and severity of symptoms may vary from person to person.

Gordon syndrome is caused by genetic changes (mutations) in the PIEZO2 gene and can be inherited in an autosomal dominant pattern.^[3] Gordon syndrome is diagnosed by clinical examination and genetic testing. Treatment is directed at the symptoms and includes surgery and physical therapy to loosen the joints. People with Gordon syndrome often have reduced mobility, but Gordon syndrome doesn't usually result in other health problems.

Last updated: 12/11/2018

Symptoms Symptoms

The symptoms of Gordon syndrome are present at birth and can include curved fingers (camptodactyly), club feet, and an opening in the roof of the mouth (cleft palate).^[2] The joints of the arms and legs including the wrists, elbows, knees and/or ankles may be stiff or unable to move. The range and severity of features can vary from person to person. Intelligence is usually normal.

Other signs and symptoms may include:^[2]
• A split in the soft hanging tissue at the back of the throat (bifid uvula)
• Short stature
• Hip dislocation
• Abnormal backward or side to side curvature of spine (scoliosis)
• Drooping of the eyelids (ptosis)
• An extra skin fold at the corner of the eyes (epicanthal folds)
• Webbing of the fingers and/or toes (syndactyly)
• A short, webbed neck (pterygium colli)
• Undescended testes in males (cryptorchidism)

Last updated: 12/11/2018

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
1%-4% of people have these symptoms
Global developmental delay		0001263
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
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	Excessive inward curvature of lower spine	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

Showing of 41 |

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

Last updated: 12/1/2018

Cause Cause

Gordon syndrome is caused by mutations in the piezo-type mechanosensitive ion channel component 2 (PIEZO2) gene.^[2]^[4] This gene makes a protein that is found in many organs of the body, but its exact function is unknown. Mutations in the PIEZO2 gene are also found in people with distal arthrogryposis type 5 and Marden Walker syndrome. The features of these conditions are like those seen in Gordon syndrome. Some researchers consider Gordon syndrome, distal arthrogryposis type 5 and Marden Walker syndrome to be the same condition with slightly different features.^[3]^[5]

Last updated: 12/11/2018

Inheritance Inheritance

Gordon syndrome is inherited in families in an autosomal dominant manner.^[2] All individuals inherit two copies of each gene. In autosomal dominant conditions, an individual has a disease-causing mutation in only one copy of the gene that causes the person to have the disease. The mutation can be inherited from a parent. Some people are born with Gordon syndrome as the result of a new genetic mutation (de novo) in the PIEZO2 gene, and do not have a history of this syndrome in their family.

Each child of an individual with Gordon syndrome has a 50% or 1 in 2 chance of inheriting the mutation and the disorder. The signs and symptoms of Gordon syndrome can be different from person to person even within the same family.

Last updated: 12/11/2018

Diagnosis Diagnosis

Gordon syndrome is diagnosed by looking for the signs and symptoms associated with the syndrome.^[2] Genetic testing of the PIEZO2 gene can aid in the diagnosis.

Last updated: 12/11/2018

Treatment Treatment

There is no specific treatment for Gordon syndrome. Physical therapy and surgery can help improve joint mobility.^[2]

Last updated: 12/11/2018

Prognosis Prognosis

People with Gordon syndrome may have reduced mobility, but Gordon syndrome is not known to impact long-term health. Distal arthrogryposis type 5 (DA5) is associated with eye problems and Marden Walker syndrome is associated with mild intellectual impairment, both of which may impact long term health^[5]. Gordon syndrome, DA5 and Marden Walker syndrome are caused by mutations in the PIEZO2 gene, and some researchers consider them to all be the same condition with slightly different features.^[3]^[5]

Last updated: 12/11/2018

Statistics Statistics

Gordon syndrome is very rare, and its exact prevalence is unknown. One paper found that about 140 people with this syndrome or a closely related syndrome have been reported in the literature.^[5]

Last updated: 12/11/2018

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

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

Arthrogryposis Multiplex Congenita Support Inc.
P.O. Box 6291
Spartanburg, SC 29304
Telephone: 805-552-6274
E-mail: bod@amcsupport.org
Website: http://www.amcsupport.org
The Arthrogryposis Group
8 Merefell Road
Bolton Le Sands
Carnforth, Cumbria, LA5 8EX United Kingdom
Telephone: 07508 679351
E-mail: help@arthrogryposis.co.uk
Website: http://www.arthrogryposis.co.uk/

Organizations Providing General Support

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS Information Clearinghouse)
One AMS Circle
Bethesda, MD 20892-3675
E-mail: NIAMSinfo@mail.nih.gov
Website: https://www.niams.nih.gov

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.

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.

Have a question? Contact a GARD Information Specialist.

References References

Gordon syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376. Accessed 12/11/2018.
Gordon syndrome. National Organization for Rare Disorders (NORD). Updated 2017; https://rarediseases.org/rare-diseases/gordon-syndrome.
Alisch F, Weichert A, Kalache K, Paradiso V et al.. Familial Gordon syndrome associated with a PIEZO2 mutation. AM J Med Genet A. 2017; 173(1):254-259. https://www.ncbi.nlm.nih.gov/pubmed/27714920.
Arthrogryposis, Distal, Type 3; DA3. Online Mendelian Inheritance in Man. Updated 2018; https://www.omim.org/entry/114300.
McMillin, M et al. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5. Am J Hum Genet. May 1, 2014; 94(5):734-44. http://www.ncbi.nlm.nih.gov/pubmed/24726473.