Jones syndrome

Common Name(s)

Jones syndrome

Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Jones 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 "Jones syndrome" returned 7 free, full-text research articles on human participants. First 3 results:

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
 

Author(s): Kristen Wigby, Stephen R F Twigg, Ryan Broderick, Katherine P Davenport, Andrew O M Wilkie, Stephen W Bickler, Marilyn C Jones

Journal: Am. J. Med. Genet. A. 2017 Jun;173(6):1586-1592.

 

Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes ...

Last Updated: 31 Dec 1969

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
 

Author(s): Stephen R F Twigg, Robert B Hufnagel, Kerry A Miller, Yan Zhou, Simon J McGowan, John Taylor, Jude Craft, Jenny C Taylor, Stephanie L Santoro, Taosheng Huang, Robert J Hopkin, Angela F Brady, Jill Clayton-Smith, Carol L Clericuzio, Dorothy K Grange, Leopold Groesser, Christian Hafner, Denise Horn, I Karen Temple, William B Dobyns, Cynthia J Curry, Marilyn C Jones, Andrew O M Wilkie

Journal: Am. J. Hum. Genet.. 2016 06;98(6):1256-1265.

 

Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. Cerebellar medulloblastoma ...

Last Updated: 31 Dec 1969

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Lupus anticoagulant hypoprothrombinemia syndrome in Bence-Jones protein κ-type multiple myeloma patient with phosphatidylserine-dependent antiprothrombin antibody.
 

Author(s): Yoshitaka Hara, Masanori Makita, Tatsunori Ishikawa, Kyosuke Saeki, Kazuhiko Yamamoto, Kenji Imajo, Midori Shima, Masahiro Ieko

Journal: Ann. Hematol.. 2013 Apr;92(4):563-4.

 

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 "Jones 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

There are currently no open clinical trials for this condition.