[MIM 166 750]

Prevalence < 1/106.  De novo mutation or autosomal dominant transmission of a heterozygous microdeletion of FGF3 (11q13). In cases of associated ocular coloboma (iris and retina), a microdeletion of an adjacent FADD gene (11q13.3) is also present.

Association of:

-        pathognomonic dental signs: globodontia of the primary and secondary dentition, sparing the incisors. Sometimes, teeth are missing, especially premolars. Because of this abnormal crown morphology of the teeth, patients have a high propensity to develop caries, and a high rate of endodontic-periodontic lesions is observed.

-        bilateral high-frequency sensorineural hearing loss, with age of onset ranging from infancy to middle age. Variable facial dysmorphism has also been reported.

Anesthetic implications:

fragile teeth

References : 

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Updated: August 2024