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Otodental syndrome Bloch-Zupan A; Goodman JROrphanet J Rare Dis 2006[Mar]; 1 (ä): 5The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.|Abnormalities, Multiple/*diagnosis/genetics/therapy[MESH]|Adult[MESH]|Child[MESH]|Coloboma/*diagnosis/genetics/therapy[MESH]|Cuspid/abnormalities[MESH]|Dental Enamel Hypoplasia/diagnosis/genetics/therapy[MESH]|Diagnosis, Differential[MESH]|Face/abnormalities[MESH]|Hearing Loss, Sensorineural/*diagnosis/genetics/therapy[MESH]|Humans[MESH]|Malocclusion/diagnosis/genetics/therapy[MESH]|Molar/abnormalities[MESH]|Odontoma/diagnosis/genetics/therapy[MESH]|Syndrome[MESH]|Tooth Abnormalities/*diagnosis/genetics/therapy[MESH] |
