Jones syndrome

Title

Other Names:

Gingival fibromatosis with progressive deafness; GFD; Gingival fibromatosis with sensorineural hearing loss; Gingival fibromatosis with progressive deafness; GFD; Gingival fibromatosis with sensorineural hearing loss; Familial gingival fibromatosis associated with progressive deafness See More

Categories:

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

Summary Summary

Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss.^[1] 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.^[2] Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known.^[1] Only a few families with Jones syndrome have been reported.

Last updated: 10/7/2014

Symptoms Symptoms

Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may occur before.^[3] Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, increased spacing, speech problems, and painful chewing.^[2] Absence of teeth (oligodontia) and extra (supernumerary) teeth have also been reported in people with Jones syndrome.^[4] Hearing loss has been reported to begin in the second or third decade of life and is bilateral (in both ears).^[4]

Overlapping of symptoms with other syndromes associated with hereditary gingival fibromatosis (HGF) has been reported, including Zimmermann-Laband syndrome and gingival fibromatosis-hypertrichosis syndrome (HGF with excessive hair growth). It has been proposed that the overlapping features reported may represent a spectrum of a single disorder, rather than separate syndromes.^[3]

Last updated: 10/6/2014

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Delayed eruption of teeth	Very frequent (present in 80%-99% of cases)
Gingival fibromatosis	Very frequent (present in 80%-99% of cases)
Gingival overgrowth	Very frequent (present in 80%-99% of cases)
Sensorineural hearing impairment	Very frequent (present in 80%-99% of cases)
Autosomal dominant inheritance	-
Progressive sensorineural hearing impairment	-

Last updated: 10/1/2017

Cause Cause

The exact, underlying genetic cause of Jones syndrome is not yet known.^[2]

Last updated: 10/7/2014

Inheritance Inheritance

Jones syndrome is inherited in an autosomal dominant manner.^[1] This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent.

Last updated: 10/6/2014

Treatment Treatment

Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated.

Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth.^[2]

The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss.^[5]

Last updated: 10/7/2014

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Organizations 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

American Speech-Language-Hearing Association (ASHA)
2200 Research Boulevard
Rockville, MD 20850-3289
Toll-free: 800-638-8255
Telephone: 301-296-5700
TTY: 301-296-5650
Fax: 301-296-8580
E-mail: http://www.asha.org/Forms/National-Office-Contact-Form/
Website: http://www.asha.org/
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 800-535-3643
Telephone: 214-570-9099
Fax: 214-570-8811
E-mail: contactCCA@ccakids.com
Website: http://www.ccakids.com/
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: http://www.faces-cranio.org/
Hearing Loss Association of America
7910 Woodmont Avenue
Suite 1200
Bethesda, MD 20814
Telephone: 301-657-2248
E-mail: info@hearingloss.org
Website: http://www.hearingloss.org
National Association of the Deaf
8630 Fenton Street Suite 820
Silver Spring, MD 20910
Telephone: 301-587-1788
TTY: 301-587-1789
Fax: 301-587-1791
E-mail: NADinfo@nad.org
Website: http://www.nad.org
World Craniofacial Foundation
P.O. Box 515838
Dallas, TX 75251-5838
Toll-free: 800-533-3315
Telephone: 972-566-6669
Fax: 972-566-3850
E-mail: info@worldcf.org
Website: http://www.worldcf.org/

Organizations Providing General Support

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

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 Jones syndrome. Click on the link to view a sample search on this topic.

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I was just searching for info on this because I was born with this, and several of my family members have also had this. There is not a lot of info available. I had my first surgery at age 10. See answer

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References References

Gingival fibromatosis - progressive deafness. Orphanet. May, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2027&lng=EN. Accessed 10/6/2014.
Aghili H, Goldani Moghadam M. Hereditary gingival fibromatosis: a review and a report of a rare case. Case Rep Dent. 2013; Accessed 10/7/2014.
Haytac MC, Ozcelik O. The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. April, 2007; 103(4):521-527. Accessed 10/6/2014.
Kasaboglu O, Tümer C, Balci S. Hereditary gingival fibromatosis and sensorineural hearing loss in a 42-year-old man with Jones syndrome. Genet Couns. 2004; 15(2):213-218. Accessed 10/6/2014.
Sensorineural deafness. MedlinePlus. October 2, 2014; http://www.nlm.nih.gov/medlineplus/ency/article/003291.htm. Accessed 10/7/2014.