Disease Profile

Jones 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Adult

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ICD-10

H90.3

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)

Gingival fibromatosis with progressive deafness; GFD; Gingival fibromatosis with sensorineural hearing loss;

Categories

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

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.

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]

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
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Gingival fibromatosis
0000169
Gingival overgrowth
Gum enlargement
0000212
Sensorineural hearing impairment
0000407
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Progressive sensorineural hearing impairment
0000408

Cause

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

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]

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

    Organizations Providing General Support

        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.

          References

          1. Gingival fibromatosis progressive deafness. Orphanet. May, 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2027&lng=EN. Accessed 10/6/2014.
          2. 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.
          3. 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.
          4. 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.
          5. Sensorineural deafness. MedlinePlus. October 2, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/003291.htm. Accessed 10/7/2014.