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Gordon Syndrome

Table of Contents

Gordon Syndrome

Distal Arthrogryposis Type 3; DA3; Camptodactyly-Cleft Palate-Clubfoot Syndrome

Gordon syndrome is an extremely rare multiple congenital malformation syndrome. It is characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Explore symptoms, causes, and genetics of this condition.

Club foot

Image by Brachet Youri

Summary

Diagrams illustrating a clubfoot and the operation to cure

Image by Wellcome Images Wellcome Trust/Wikimedia

Diagrams illustrating a clubfoot and the operation to cure

Diagrams illustrating a clubfoot and the operation to cure the condition. Coloured lithograph by N.H. Jacob after himself. Iconographic Collections Keywords: Nicolas-Henri Jacob

Image by Wellcome Images Wellcome Trust/Wikimedia

What Is Gordon Syndrome?

Gordon syndrome is caused by genetic changes (mutations) in the PIEZO2 gene and can be inherited in an autosomal dominant pattern. 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.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (2)

Club foot

bilateral club foot

Image by Brachet Youri

Club foot

Anatomy & Physiology, Connexions Web site. http://cnx.org/content/col11496/1.6/, Jun 19, 2013.

Image by OpenStax College

Club foot

Brachet Youri

Club foot

OpenStax College

Causes

Mutation

Image by National Human Genome Research Institute (NHGRI)

Mutation

A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during cell division, exposure to mutagens or a viral infection. Germline mutations (that occur in eggs and sperm) can be passed on to offspring, while somatic mutations (that occur in body cells) are not passed on.

Image by National Human Genome Research Institute (NHGRI)

What Causes Gordon Syndrome?

PIEZO2) gene. 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.

Source: Genetic and Rare Diseases (GARD) Information Center

Inheritance

Autosomal Dominant and Baby

Image by TheVisualMD / Domaina

Autosomal Dominant and Baby

Autosomal dominant : an autosomal dominant pattern.

Image by TheVisualMD / Domaina

How Is Gordon Syndrome Inherited?

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.

Source: Genetic and Rare Diseases (GARD) Information Center

Symptoms

Dorsal carpal wedge osteotomy

Image by Siward de Vries/Wikimedia

Dorsal carpal wedge osteotomy

Dorsal carpal wedge osteotomy

Image by Siward de Vries/Wikimedia

What Are the Signs and Symptoms of Gordon Syndrome?

Other signs and symptoms may include:
• 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)

Source: Genetic and Rare Diseases (GARD) Information Center

Diagnosis

Genetic testing

Image by genome.gov

Genetic testing

Genetic testing fact sheet

Image by genome.gov

How Is Gordon Syndrome Diagnosed?

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

Source: Genetic and Rare Diseases (GARD) Information Center

Genetic Testing

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

{"label":"Genetic Test Reference Range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"negative","label":{"short":"Negative","long":"Negative","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"A negative result means that the test did not find a genetic change known to cause disease. ","conditions":[]},{"flag":"borderline","label":{"short":"Uncertain","long":"Uncertain","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"An uncertain result means that a variant of unknown or uncertain significance means there isn\u2019t enough information about that genetic change to determine whether it is benign (normal) or pathogenic (disease causing).","conditions":[]},{"flag":"positive","label":{"short":"Positive","long":"Positive","orientation":"horizontal"},"values":{"min":2,"max":3},"text":"A positive result means that the test found a genetic change known to cause disease.","conditions":[]}],"value":0.5}[{"negative":0},{"borderline":0},{"positive":0}]
Use the slider below to see how your results affect your health.
Your result is Negative.
A negative result means that the test did not find a genetic change known to cause disease.
Related conditions
Genetic testing may be done for many different reasons, including to:
- Find genetic diseases in unborn babies. This is one type of prenatal testing.
- Screen newborn babies for certain treatable conditions
- Lower the risk of genetic diseases in embryos that were created using assisted reproductive technology
- Find out if you carry a gene for a certain disease that could be passed on to your children. This is called carrier testing.
- See whether you are at increased risk of developing a specific disease. This may be done for a disease that runs in your family.
- Diagnose certain diseases
- Identify genetic changes that may be causing or contributing to a disease that you were already diagnosed with
- Figure out how severe a disease is
- Help guide your doctor in deciding the best medicine and dosage for you. This is called pharmacogenomic testing.
There are no known risks to having a saliva test. There is very little risk to having a blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
The physical risks of the different types of genetic testing are small. But there can be emotional, social, or financial drawbacks:
- Depending on the results, you may feel angry, depressed, anxious, or guilty. This can be especially true if you are diagnosed with a disease that does not have effective treatments.
- You may be worried about genetic discrimination in employment or insurance
- Genetic testing may give you limited information about a genetic disease. For example, it cannot tell you whether you will have symptoms, how severe a disease might be, or whether a disease will get worse over time.
- Some genetic tests are expensive, and health insurance might only cover part of the cost. Or they may not cover it at all.
- Positive – the test found a genetic change known to cause disease.
- Negative – the test did not find a genetic change known to cause disease. Sometimes a negative result occurs when the wrong test was ordered or there isn’t a genetic cause for that person’s symptoms. A “true negative” is when there is a known genetic change in the family and the person tested did not inherit it. If your test results are negative and there is no known genetic change in your family, a negative test result may not give you a definite answer. This is because you might not have been tested for the genetic change that runs in your family.
- Uncertain – a variant of unknown or uncertain significance means there isn’t enough information about that genetic change to determine whether it is benign (normal) or pathogenic (disease causing).
1. Genetic Testing | CDC. Sep 23, 2022 [accessed on Feb 23, 2022]
2. Genetic Testing: MedlinePlus. National Library of Medicine. Jun 11, 2021 [accessed on Feb 23, 2022]
3. What is genetic testing?: MedlinePlus Genetics [accessed on Feb 23, 2022]
4. Genetic Testing FAQ. Genome.gov [accessed on Feb 23, 2022]
5. Genetic testing and your cancer risk: MedlinePlus Medical Encyclopedia [accessed on Feb 23, 2022]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (21)

Genetic testing

Genetic testing fact sheet

Image by genome.gov

Genetic testing

Genetic testing existed before the Human Genome Project and the list of diseases that we can already screen for may be longer than you think.

Image by TheVisualMD

Genes and Genetic Defects

Genetic testing isn't new. In the 1960s, doctors were able to test newborn babies for certain rare single-gene disorders, such as phenylketonuria (PKU), a rare metabolic disease that causes mental retardation. (PKU can be prevented with a special diet if it's detected early, which was why it was critical to test newborns.)

Image by TheVisualMD

Mapping Your Future: Screening for Disease Risk

Image by TheVisualMD

Each person with Down syndrome has different talents and the ability to thrive.

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Image by CDC

genetic analysis

Biotechnology - DNA analysis and treatment

Image by OpenClipart-Vectors/Pixabay

Family history (medicine)

An extended family in Spain

Image by Ojedamd

Biotechnology

This diagram shows the basic method used for extraction of DNA.

Image by CNX Openstax

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Video by Sanford Health/YouTube

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Video by Ambry Genetics/YouTube

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Video by Ambry Genetics/YouTube

Should You Get Genetic Testing During Your Pregnancy?

Video by St. Louis Children's Hospital/YouTube

Debating Embryonic Genetic Testing -- The Doctors

Video by The Doctors/YouTube

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

Video by AMITA Health/YouTube

MedGenome BRCA - Breast Cancer Genetic Testing

Video by MedGenome/YouTube

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

Video by UCLA Health/YouTube

Do I need Genetic Testing for Ichthyosis?

Video by foundation for ichthyosis/YouTube

What Is Genetic Testing? Understanding the Process and Its Results

Video by uvahealth/YouTube

How to Understand Your Genetic Testing Results

Video by Breast Cancer Answers®/YouTube

Genetic Testing 101 for People with Rare Diseases

Video by National Organization for Rare Disorders (NORD)/YouTube

What's the difference between genetic and genomic testing?

Video by Cancer Treatment Centers of America - CTCA/YouTube

Genetic testing

genome.gov

Genetic testing

TheVisualMD

Genes and Genetic Defects

TheVisualMD

Mapping Your Future: Screening for Disease Risk

TheVisualMD

Each person with Down syndrome has different talents and the ability to thrive.

CDC

genetic analysis

OpenClipart-Vectors/Pixabay

Family history (medicine)

Ojedamd

Biotechnology

CNX Openstax

1:57

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Sanford Health/YouTube

1:06

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Ambry Genetics/YouTube

0:45

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Ambry Genetics/YouTube

3:04

Should You Get Genetic Testing During Your Pregnancy?

St. Louis Children's Hospital/YouTube

4:40

Debating Embryonic Genetic Testing -- The Doctors

The Doctors/YouTube

1:31

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

AMITA Health/YouTube

2:10

MedGenome BRCA - Breast Cancer Genetic Testing

MedGenome/YouTube

1:37

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

UCLA Health/YouTube

1:43

Do I need Genetic Testing for Ichthyosis?

foundation for ichthyosis/YouTube

2:01

What Is Genetic Testing? Understanding the Process and Its Results

uvahealth/YouTube

3:58

How to Understand Your Genetic Testing Results

Breast Cancer Answers®/YouTube

1:00:31

Genetic Testing 101 for People with Rare Diseases

National Organization for Rare Disorders (NORD)/YouTube

2:05

What's the difference between genetic and genomic testing?

Cancer Treatment Centers of America - CTCA/YouTube

Treatment

physical therapy

Image by Noun Project - https://thenounproject.com/icon/616 : Author undefined

physical therapy

Physical Therapy - The Noun Project icon from the Noun Project

Image by Noun Project - https://thenounproject.com/icon/616 : Author undefined

How Might Gordon Syndrome Be Treated?

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

Source: Genetic and Rare Diseases (GARD) Information Center

Prognosis

Prognosis Icon

Image by mcmurryjulie/Pixabay

Prognosis Icon

Image by mcmurryjulie/Pixabay

What Is the Long-Term Outlook for People with Gordon Syndrome?

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. 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.

Source: Genetic and Rare Diseases (GARD) Information Center

Statistics

Unknown (película)

Image by Diseñadores publicitarios/Wikimedia

Unknown (película)

Logo de «Unknown».

Image by Diseñadores publicitarios/Wikimedia

How Common Is Gordon Syndrome?

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.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Over 2000 tests are available. Genetic testing may be done for many reasons, from newborn baby screening to diagnosing certain diseases. Read about why you might consider testing.

Genetic Counseling

Genetic counseling provides support to people who have, or may be at risk for, genetic disorders. There are many reasons to seek genetic counseling. Learn more about these reasons and what to expect.

Inheriting Genetic Conditions

Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth. Concerned about passing on a genetic disorder? Explore a list of questions and answers related to inheriting genetic conditions.

Genetic Disorders

A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn more about the types of genetic disorders and how they're diagnosed.

Newborn Screening: Metabolic and Genetic Disorders

Newborn screening is done shortly after birth and identifies treatable conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. Learn about metabolic and genetic disorders detected by newborn blood spot screening.

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Gordon Syndrome

Gordon syndrome is an extremely rare multiple congenital malformation syndrome. It is characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Explore symptoms, causes, and genetics of this condition.

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