Gordon syndrome

What is the cause of Gordon syndrome?

Gordon syndrome is caused by mutations in the piezo-type mechanosensitive ion channel component 2 ( 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.

Last updated on 05-01-20

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.

Last updated on 05-01-20

How is Gordon syndrome inherited?

Gordon syndrome is inherited in families in an autosomal dominant manner. 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 on 05-01-20

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.

Last updated on 05-01-20

How many people have 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.

Last updated on 05-01-20

How might Gordon syndrome be treated?

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

Last updated on 05-01-20

Name: Arthrogryposis Multiplex Congenita Support Inc. P.O. Box 6291
Spartanburg, SC, 29304, United States
Phone: +1-805-552-6274 Toll Free: 1-805-55-AMCSI (1-805-552-6274) Email: bod@amcsupport.org Url: https://amcsupport.org
Name: National Institute of Arthritis and Musculoskeletal and Skin Diseases NIAMS Information Clearinghouse One AMS Circle
Bethesda, MD, 20892-3675,
Email: NIAMSinfo@mail.nih.gov Url: https://www.niams.nih.gov
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. Reference Link Arthrogryposis, Distal, Type 3; DA3 Online Mendelian Inheritance in Man. Updated 2018; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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