Table 1 Genetic syndromes in which taurodontism has been documented.

From: Taurodontism in dental genetics

Disorder

OMIM

Gene/s

Ref.

Amelogenesis imperfecta, type IE

310200

AMELX

Crawford and Aldred33

Amelogenesis imperfecta, type IV

104510

DLX3

Whitehouse et al.21

Down syndrome

190685

Trisomy21

deMoraes et al.34

Ectodermal dysplasia

305100

EDA

Dagrus et al.35

Ectrodactyly-Ectodermal Dysplasia-Cleft lip/palate (EEC) syndrome

604292

TP63

Zheng et al.36

Ankyloblepharon-Ectodermal Defects-Cleft lip/palate (AEC) syndrome

106260

TP63

Zheng et al.36

Ellis-van Creveld syndrome

225500

EVC, EVC2

Zheng et al.36

   

Ghosh et al.37

   

Pena-Cardelles et al.38

   

Shaik et al.39

Hurler syndrome (MPS I)

607014

IDUA

McGovern et al.40

Hypophosphatasia

146300

ALPL

Mohan et al.18

Klinefelter syndrome (47, XXY Syndrome)

  

Yeh and Hsu17

Lowe syndrome

309000

OCRL

Tsai and O’Donne41

Maroteaux-Lamy syndrome

253200

ARSB

Jayashankara et al.42

Mohr syndrome (Oro-facial-digital syndrome type II)

252100

unknown

Halve et al.43

Mulvihill-Smith syndrome

176690

Causative gene not identified

Passarelli et al.44

Oculo-dento-digital dysplasia (AD)

164200

GJA1

Feller et al.45

Oculo-dento-digital dysplasia (AR)

257850

GJA1

 

Oro-dental phenotype in patients with RUNX2 duplication

 

RUNX2 duplication

Merametdjian et al.46

Osteogenesis imperfecta type I

166200

COL1A1

Theusen et al.27

Osteogenesis imperfecta Type II

166210

COL1A2

O’Carroll et al.19

Osteogenesis imperfecta Type III

259420

Several genes involved

Malmgren and Norgren26

Osteogenesis imperfecta Type OI IV

166220

 

Likinmaa et al.25

Rapp-Hodgkin

129400

TP63

Bougeard et al.47

SATB2-associated syndrome (Glass syndrome)

612313

SATB2

Scott et al.48

Smith-Magenis syndrome

182290

RAI1

Tomono et al.49

Tricho-dento-osseous

190320

DLX3

Whitehouse et al.21

Wolf-Hirschhorn syndrome (gene deletion syndrome)

194190

hemizygous deletion of 4p16.3

Johnston50

X-chromosome aneuploid syndrome (Triple X syndrome)

  

Jasper and Witkop51