Gingival fibromatosis-progressive deafness syndrome

Orpha code: 2027OMIM code: 135550

Definition

A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.

Disease data
Classification

Malformation syndrome

Synonyms
Gingival fibromatosis-progressive hearing loss syndrome
Zespół Jonesa
Jones syndrome
ORPHA code
2027
OMIM code
135550
ICD10 code
H90.3
ICD11 code
LD2H.Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl