Background
Review
Disease name and synonyms
Definition
Epidemiology
GF associated with hereditary factors (non-syndromic)
Disease/syndrome | Synonyms | Prevalence | Inheritance | Chromosomal region/gene locus | Causing or candidate gene | Age of onset | Clinical hallmarks |
---|---|---|---|---|---|---|---|
Hereditary gingival fibromatosis, HGF, ORPHA 2024, MIM 135300 [4] | Autosomal dominant gingival fibromatosis, Autosomal dominant gingival hyperplasia, Hereditary gingival hyperplasia | unknown | GINGF | All ages | |||
Autosomal dominant | 2p21-p22 [97] |
SOS1* [100] | |||||
GINGF2 | |||||||
Autosomal dominant | 5q13-q22 |
CAMK4* [98] | |||||
GINGF3 | |||||||
Autosomal dominant | 2p23.3-p22.3 [102] | unknown | |||||
GINGF4 | |||||||
Autosomal dominant | 11p15 [77] | unknown | |||||
Gingival fibromatosis with craniofacial dysmorphism, ORPHA 2025, MIM 228560 [5] | - | <1/1 000 000 | Autosomal recessive | unknown | unknown | Neonatal | |
Gingival fibromatosis with progressive deafness, ORPHA 2027, MIM 135550 [6] | Jones syndrome | <1/1 000 000 | Autosomal dominant | unknown | unknown | Adults | |
Gingival fibromatosis/hypertrichosis syndrome, HTC3, ORPHA 2026, MIM 135400 [13] | Congenital generalized hypertrichosis terminalis (CGHT), Hirsutism/congenital gingival hyperplasia syndrome, Hypertrichose avec ou sans hyperplasie gingivale, Hypertrichosis with or without gingival hyperplasia | unknown | Autosomal dominant, autosomal recessive | 17q24.2-q24.3 [170] |
ABCA5* [171] | Infancy, neonatal | |
Ramon syndrome, ORPHA 3019, MIM 266270 [14] | Cherubism/gingival fibromatosis/intellectual disability | unknown | Autosomal recessive | unknown | unknown | Infancy | |
Zimmermann -Laband syndrome [9] | Gingival fibromatosis/hepatosplenomegaly/other anomalies, Laband syndrome | <1/1 000 000 | Autosomal dominant | Infancy, neonatal | Gingival fibromatosis, delayed tooth eruption, prominent mandible, high arched palate, broad nasal bridge, thick lips, thick eyebrows, synophrys, myopia, cataracts, cardiomyopathy, hepatomegaly, splenomegaly, scoliosis, hyperextensible fingers, hypoplastic distal phalanges, mental disability, seizures [179‐184]. | ||
Infantile systemic hyalinosis (ISH), ORPHA 2176, MIM 236490 [7] | Murray-Puretic-Drescher syndrome, Puretic syndrome | <1/1 000 000 | Autosomal recessive | Childhood | |||
Juvenile hyaline fibromatosis (JHF), ORPHA 2028, MIM 228600 [8] | - | Antenatal, neonatal, infancy | |||||
Oculodental syndrome, Rutherfurd type, ORPHA 2709, MIM 180900 [12] | Gingival hypertrophy/ Corneal dystrophy, corneal dystrophy with gum hypertrophy, Rutherfurd syndrome | <1/1 000 000 | Autosomal dominant | unknown | unknown | Infancy, neoneatal | |
Amelogenesis imperfecta/nephrocalcinosis syndrome, ORPHA 1031, MIM 204690** [10] | Enamel - renal syndrome (ERS), Enamel - renal - gingival syndrome | <1/1 000 000 | Autosomal recessive | Orodental phenotype – childhood; renal phenotype - adults | Orodental phenotype: gingival fibromatosis, delayed tooth eruption, thin hypoplastic or absent enamel, microdontia and spaced teeth, intra-pulpal calcifications, root dilacerations of impacted teeth [154, 195, 196, 198]. Renal phenotype: bilateral medullary nephrocalcinosis, focal clusters of sclerosed glomeruli, marked periglomerular fibrosis with lymphocytic and plasma cell infiltration of the renal interstitium [199‐202]. | ||
Amelogenesis imperfecta/ gingival fibromatosis syndrome (AIGFS), ORPHA 171836, MIM 614253** [11] |