Jones syndrome

Other Names: Gingival fibromatosis with progressive deafness; GFD; Gingival fibromatosis with sensorineural hearing loss; Familial gingival fibromatosis associated with progressive deafness

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.

Epidemiology

Only a few families with Jones syndrome have been reported.

Cause

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

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Jones syndrome is inherited in an autosomal dominant manner. 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.

Signs and 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. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, increased spacing, speech problems, and painful chewing. Absence of teeth (oligodontia) and extra (supernumerary) teeth have also been reported in people with Jones syndrome. Hearing loss has been reported to begin in the second or third decade of life and is bilateral (in both ears).

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Delayed eruption of teeth(Delayed eruption)
• Gingival fibromatosis
• Gingival overgrowth(Gum enlargement)
• Sensorineural hearing impairment

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. 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.

NIH genetic and rare disease info

• NIH info on Jones syndrome

Jones syndrome is a rare disease.

Jones syndrome Resources
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