Alazami-Yuan syndrome |
#617126 |
AR |
TAF6
|
7q22.1 |
Crowded teeth |
12 |
Barber-Say syndrome |
#209885 |
AD |
TWIST2
|
2q37.3 |
Taurodontism in the molar tooth, early apical closure in permanent and incisive blade-shaped anterior teeth, delayed tooth eruption, infra-occluded molars and wide alveolar grooves |
13 |
Bloom syndrome |
#210900 |
AR |
RECQL3
|
15q26.1 |
Agenesis of the upper lateral incisors |
14 |
|
(WRN)
|
|
Cantu syndrome |
#239850 |
AD |
ABCC9
|
12p12.1 |
Dental malocclusion |
15 |
Chromosome 17q21.31 duplication syndrome |
#613533 |
IC |
-
|
17q21.31 |
Crowded incisor |
16 |
Coffin-siris syndrome |
#135900 |
AD |
ARID1B,
|
6q25.3 |
Abnormal dental shape and hypodontia |
17 |
#614607 |
|
ARID1A, SMARCB1, SMARCA4, SMARCE1
|
1p36.11 |
|
#614608 |
|
|
22q11.23 |
|
#614609 |
|
|
19p13.2 |
|
#616938 |
|
|
17q21.2 |
|
Cornelia de Lange syndrome |
#122470 |
AD |
NIPBL,
|
5p13.2 |
Agenesis of the lower lateral incisors, agenesis of deciduous second molars, deciduous macrodontic teeth, permanent macrodontic teeth, agenesis of the lower deciduous lateral incisors, conoid incisor, delayed tooth eruption, microdontia, dysmorphic teeth and widely spaced and rotated teeth |
18 |
Crouzon syndrome |
#123500 |
AD |
FGFR2
|
10q26.13 |
Agenesis of deciduous second molars and dental crowding |
19 |
Dental anomalies and short stature |
#601216 |
AR |
LTBP3
|
11q13.1 |
Enamel hypoplasia, widely spaced teeth, retention of deciduous teeth, delayed eruption of permanent teeth, imperfect amelogenesis, taurodontic pulp chambers, microdontic primary teeth, permanent tooth oligodontics and enamel discoloration |
20 |
Developmental and epileptic encephalopathy 85 with or without midline brain defects |
#301044 |
XLD |
SMC1A
|
Xp11.22 |
Crowded teeth, single central incisor |
21 |
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis |
#618180 |
AR |
TSPEAR
|
21q22.3 |
Oligodontics, conoid teeth |
22 |
Ehlers-Danlos syndrome |
#225410 |
AR |
ADAMTS2
|
5q35.3 |
Upper canine agenesis, lower premolar agenesis, lower molar agenesis, lower incisor agenesis and lower premolar agenesis, permanent teeth with color change, microdontia, malocclusion |
23 |
Fillippi syndrome |
#272440 |
AR |
CKAP2L
|
2q14 |
Microdontia, hypodontia (rare), saw teeth, widely spaced teeth |
24 |
Fontaine Progeroid syndrome |
#612289 |
AD |
SLC25A24
|
1p13.3 |
Hypodontia, microdontia, oligodontia and widely spaced teeth, bell-shaped crown, spindle-shaped roots and small or absent pulp chamber |
25 |
Frontometaphyseal dysplasia |
#305620 |
XLR |
FLNA
|
Xq28 |
Selective tooth agenesis, delayed tooth eruption, retained deciduous teeth, malocclusion, irregularly implanted teeth. |
26 |
#617137 |
AD |
MAP3K7
|
6q15 |
|
Hypertrichosis, congenital generalized |
#307150 |
XLD |
-
|
Xq27.1 |
Delay in tooth eruption, hypodontia, and dental shape alteration. |
27 |
|
|
|
|
|
Widely spaced teeth, delayed tooth eruption |
Hypertrichosis, congenital generalized, with or without gingival hyperplasia |
#135400 |
AR |
ABCA5
|
17q24.2-q24.3 |
|
Hypomelanosis of Ito |
#300337 |
Somatic Mosaic |
-
|
Xp11 |
Upper incisors with claw-shaped cusps and anterior deciduous teeth with yellowish-brown crowns and widely spaced teeth |
28 |
Hajdu-Cheney syndrome |
#102500 |
AD |
NOTCH2
|
1p12 |
Early tooth loss and malocclusion |
29 |
Hennekan Lymphangiectasia-Syndrome 1 |
#235510 |
AR |
CCBE1
|
18q21.32 |
Oligodontia, peg-shaped incisors and delayed eruption |
30 |
Immunodeficiency 49 |
#617237 |
AD |
BCL11B
|
14q32.2 |
Neonatal teeth |
31 |
Kabuki syndrome 2 |
#300867 |
XLD |
KDM6A
|
Xp11.3 |
Macrodontics, dental malocclusion, agenesis of upper lateral incisors and inner central incisors, neonatal teeth (rare) |
32 |
Hypomyelinating leukodystrophy-17 |
#618006 |
AR |
AIMP2
|
7p22.1 |
Widely spaced teeth |
33 |
Lichtenstein syndrome |
#246550 |
IC |
-
|
- |
Enamel hypoplasia and discolored teeth |
34 |
Mandibulofacial dysostosis with macroblepharon and macrostomia |
#602562 |
IC |
-
|
- |
Ectopic teeth and oligodontics |
35 |
Mannosidosis, alpha B, lysosomal |
#248500 |
AR |
MAN2B1
|
19p13.13 |
Teeth widely spaced |
36 |
Marshall-Smith Syndrome |
#602535 |
AD |
NFIX |
19p13.13 |
Dental malocclusion |
37 |
Mental retardation, X-linked 99, syndromic, female-restricted |
#300968 |
XLD |
USP9x
|
Xp11.4 |
Widely spaced teeth, malocclusion, crowding, tooth agglomeration |
38 |
Mucopolysaccharidosis, type II |
#309900 |
XLR |
IDS
|
Xq28 |
Delay in tooth eruption and widely spaced teeth |
39 |
Ramon syndrome |
#266270 |
AR |
-
|
- |
Delay in tooth eruption |
40 |
Rubinstein-Taybi syndrome |
#180849 |
AD |
CREBBP
|
16p13.3 |
Dental crowding, upper incisors with claw-shaped cusps, malocclusion, wedge-shaped or screwdriver and enamel discoloration |
41 |
Segmental Odontomaxillary Dysplasia |
- |
IC |
-
|
- |
Pre-molar agenesis and delayed eruption of permanent molars |
42 |
Schinzel-Giedion syndrome |
#269150 |
AD |
SETBP1
|
18q12.3 |
Macrodontics, tooth eruption delays, agenesis of the upper deciduous lateral incisors and agenesis of the lower deciduous lateral incisors |
43 |
Specific granule deficiency 2 |
#617475 |
AR |
SMARCD2
|
17q23.3 |
Irregularly shaped teeth, misaligned teeth and incomplete amelogenesis |
44 |
Spinocerebellar ataxia, autosomal recessive 20 |
#616354 |
AR |
SNX14
|
6q14.3 |
Delay in tooth eruption and crowding |
45 |
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type |
#610442 |
AR |
NANS
|
9q22.33 |
Dental misalignment |
46 |
Trichhepatoneurodevopmental Syndrome |
#618268 |
AR |
CCDC47 |
17q23.3 |
Widely spaced teeth, dental crowding, microdontia, dental malocclusion |
47 |
Tenorio syndrome |
#616260 |
AD |
RFF125
|
18q12.1 |
Delay in tooth eruption |
48 |
Weidemann-Steinner syndrome |
#605130 |
AD |
KMT2A
|
11q23.3 |
Delay in tooth eruption, supernumerary tooth between central incisor and deciduous canine, malocclusion, hypodontia and ectopic teeth |
49 |
Zimmermann-Laband syndrome |
#135500 |
AD |
KCNH1
|
1q32.2 |
Delay in dental eruption |
50 |