Gordon Syndrome

Common Name(s)

Gordon Syndrome

Gordon Syndrome is an extremely rare inherited condition characterized by the 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; but in some cases, additional abnormalities such as scoliosis and undescended tesicles in males may also be present. Symptoms usually include stiffness and impaired mobility of certain joints of the lower arms and legs, including the knees, elbows, wrists, and/or ankles. In general, 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gordon Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gordon Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.
 

Author(s): Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik

Journal:

 

CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more ...

Last Updated: 31 Dec 1969

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TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.
 

Author(s): Nilofer Husain, Qiang Yuan, Yi-Chun Yen, Olga Pletnikova, Dong Qianying Sally, Paul Worley, Zoë Bichler, H Shawn Je

Journal: Aging Cell. 2017 Apr;16(2):281-292.

 

Multiple loss-of-function mutations in TRIAD3 (a.k.a. RNF216) have recently been identified in patients suffering from Gordon Holmes syndrome (GHS), characterized by cognitive decline, dementia, and movement disorders. TRIAD3A is an E3 ubiquitin ligase that recognizes and facilitates ...

Last Updated: 31 Dec 1969

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Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
 

Author(s): A Kemal Topaloglu, Alejandro Lomniczi, Doris Kretzschmar, Gregory A Dissen, L Damla Kotan, Craig A McArdle, A Filiz Koc, Ben C Hamel, Metin Guclu, Esra D Papatya, Erdal Eren, Eda Mengen, Fatih Gurbuz, Mandy Cook, Juan M Castellano, M Burcu Kekil, Neslihan O Mungan, Bilgin Yuksel, Sergio R Ojeda

Journal: J. Clin. Endocrinol. Metab.. 2014 Oct;99(10):E2067-75.

 

Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gordon Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
 

Status: Recruiting

Condition Summary: Freeman-Sheldon Syndrome; Arthrogryposis Distal Type 2A; Whistling Face Syndrome; Craniocarpotarsal Dysplasia; Craniocarpotarsal Dystrophy; Freeman-Sheldon Syndrome Variant; Sheldon-Hall Syndrome; Arthrogryposis Distal Type 2B; Gordon Syndrome; Arthrogryposis Distal Type 3; Arthrogryposis Distal Type 1; Arthrogryposis, Distal, Type 1A; Arthrogryposis Distal Type 1B; Arthrogryposis, Distal; Craniofacial Abnormalities; Arthrogryposis

 

Last Updated: 5 Apr 2017

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