Jones Syndrome

At a glance

A genetically transmitted polymalformative syndrome characterized by gingival fibromatosis and progressive sensorineural deafness.

Synonyms

Gingival Fibromatosis with Hearing Loss; Gingival Fibromatosis with Sensorineural Hearing Loss; Jones-Hartsfield Syndrome.

Incidence

Fewer than 100 cases published.

Genetic inheritance

Autosomal dominant.

Clinical aspects

Association of gingival fibromatosis and progressive sensorineural hearing loss.

Anesthetic considerations

Because of gingival fibromatosis, a complete evaluation of the airway, including mouth opening, must be performed to eliminate the possibility of difficult direct laryngoscopy and tracheal intubation. Difficult airway management because of gingival hypertrophy is not common but has been observed in patients affected with gingival hypertrophy caused by digitalis toxicity. Check for associated abnormalities especially of the heart and lungs.

Other conditions to be considered

• Byars-Jurkiewicz Syndrome: Characterized by hypertrichosis, gingival hypertrophy, giant fibroadenomas of breast, and kyphosis.

• ☞Oculocerebral with Hypopigmentation Syndrome (Cross-McKusick-Breen Syndrome; Cross Syndrome; Depigmentation-Gingival Fibromatosis-Microphthalmia; Kramer Syndrome): Extremely rare autosomal recessive inheri­ted syndrome (<20 cases described). Most symptoms are present at birth or develop shortly thereafter. It may include very light skin color and silvery hair in combination with ophthalmologic (microphthalmia, corneal clouding, cataract, ectropion) and central nervous system anomalies (dolichocephaly, mental retardation, athetosis, ataxia, spastic paraplegia or tetraplegia). Gingival fibromatosis may develop at the age of emergence of the first teeth and may result in complete coverage of the teeth and become so significant that ventilation is impaired. The association between diaphragmatic dysfunction and lung ventilation may lead to inadequate ventilation.

• Gingival Fibromatosis, Hypertrichosis, Epilepsy, Mental Retardation Syndrome: Characterized by mental retardation, epilepsy, brachymetacarpalia, hirsutism, bulbous short nose, thick floppy ears with abnormal configuration, and gingival hypertrophy. Other clinical features include congenital heart defects (eg, tetralogy of Fallot), congenital hypothyroidism, and bilateral ureteral stenosis. Inheritance has been suggested to result from an autosomal recessive trait.

• ☞Laband Syndrome: Characterized by soft tissue enlargement of the nose and ears, gingival hypertrophy, skeletal abnormalities, obscure or reduced size of toenails and thumbnails, short terminal phalanges, hypermobility of several joints, and hepatosplenomegaly.

• ☞Juvenile Hyaline Fibromatosis: Autosomal recessive condition that usually presents with nodular/papular skin lesions and gingival hypertrophy during the first few years of life. The skin lesions typically occur on the hands, scalp, ears, and around the nose and require recurrent excision. Progressive joint contractures and osteopenia are characteristics and may result in severely limited mobility. Diagnosis is confirmed by demonstration of hyaline deposition in the dermis and is called juvenile hyaline fibromatosis.

• ☞Ramon Syndrome: Characterized by cherubism (maxillary fibrous dysplasia), gingival fibromatosis, stunted growth, hypertrichosis, mental retardation, and epilepsy. Other clinical features may include pigmentary changes in the retina, paleness of the optic disk, Axenfeld anomaly, and giant hypertrophy of the labia ...