Disease Profile

Gordon syndrome

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

Neonatal

ICD-10

Q68.8

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Arthrogryposis distal type 3; Distal arthrogryposis type 3; DA3;

Categories

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

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.

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)

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.

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
0003199
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
5%-29% of people have these symptoms
Cleft palate
Cleft roof of mouth
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
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
Abnormal rib cage morphology
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

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]

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.

Treatment

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

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

    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.

        References

        1. Gordon syndrome. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376. Accessed 12/11/2018.
        2. Gordon syndrome. National Organization for Rare Disorders (NORD). Updated 2017; https://rarediseases.org/rare-diseases/gordon-syndrome.
        3. 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.
        4. Arthrogryposis, Distal, Type 3; DA3. Online Mendelian Inheritance in Man. Updated 2018; https://www.omim.org/entry/114300.
        5. 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. https://www.ncbi.nlm.nih.gov/pubmed/24726473.