Table 1 Genetic syndromes in which taurodontism has been documented.
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 |