Entry - %135550 - FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS - OMIM

 
ICD+
% 135550

FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS


Alternative titles; symbols

GINGIVAL FIBROMATOSIS WITH SENSORINEURAL HEARING LOSS; GFD
JONES SYNDROME


Clinical Synopsis
 

INHERITANCE
- Autosomal dominant
HEAD & NECK
Ears
- Hearing loss, progressive sensorineural
Mouth
- Gingival fibromatosis
▲ Close

TEXT

▼ Clinical Features

Jones et al. (1977) described a family with gingival fibromatosis (see 135300) associated with progressive sensorineural hearing loss in 5 generations. Whereas 9 persons had GF without demonstrated or reported deafness, all 16 persons with a hearing loss had GF. The proband with the full syndrome was 10 years old.

Hartsfield et al. (1985) reported 5 cases of GFD in 3 generations with male-to-male transmission.


▼ Inheritance

The transmission pattern of gingival fibromatosis with progressive deafness in the families reported by Jones et al. (1977) and Hartsfield et al. (1985) was consistent with autosomal dominant inheritance.


▼ REFERENCES

  1. Hartsfield, J. K., Jr., Bixler, D., Hazen, R. H. Gingival fibromatosis with sensorineural hearing loss: an autosomal dominant trait. Am. J. Med. Genet. 22: 623-627, 1985. [PubMed: 4061496, related citations] [Full Text]

  2. Jones, G., Wilroy, R. S., Jr., McHaney, V. Familial gingival fibromatosis associated with progressive deafness in five generations of a family. Birth Defects Orig. Art. Ser. XIII(3B): 195-201, 1977.


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
carol : 03/27/2012
mgross : 3/17/2004
mimadm : 9/24/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
marie : 1/7/1987

% 135550

FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS


Alternative titles; symbols

GINGIVAL FIBROMATOSIS WITH SENSORINEURAL HEARING LOSS; GFD
JONES SYNDROME


SNOMEDCT: 722449007;   ORPHA: 2027;  



TEXT

Clinical Features

Jones et al. (1977) described a family with gingival fibromatosis (see 135300) associated with progressive sensorineural hearing loss in 5 generations. Whereas 9 persons had GF without demonstrated or reported deafness, all 16 persons with a hearing loss had GF. The proband with the full syndrome was 10 years old.

Hartsfield et al. (1985) reported 5 cases of GFD in 3 generations with male-to-male transmission.


Inheritance

The transmission pattern of gingival fibromatosis with progressive deafness in the families reported by Jones et al. (1977) and Hartsfield et al. (1985) was consistent with autosomal dominant inheritance.


REFERENCES

  1. Hartsfield, J. K., Jr., Bixler, D., Hazen, R. H. Gingival fibromatosis with sensorineural hearing loss: an autosomal dominant trait. Am. J. Med. Genet. 22: 623-627, 1985. [PubMed: 4061496] [Full Text: https://doi.org/10.1002/ajmg.1320220323]

  2. Jones, G., Wilroy, R. S., Jr., McHaney, V. Familial gingival fibromatosis associated with progressive deafness in five generations of a family. Birth Defects Orig. Art. Ser. XIII(3B): 195-201, 1977.


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 03/27/2012
mgross : 3/17/2004
mimadm : 9/24/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
marie : 1/7/1987



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 9, 2024