[MIM 217 080, 104 500, 104 510, 104 530, 130 900, 204 650, 204 700, 301 200, 301 206, 616 270, 613 211, 614 832, 615 887, 616 221, 617 217]

Prevalence: about 1/14,000. Group of abnormalities of structure and appearance of the enamel of the teeth, either deciduous or permanent. Sporadic cases or autosomal dominant, recessive, or X-linked transmission. 

Mutations of the gene:

-        AMELX (Xp22.3-p22.1) that codes for amelogenine (X)

-        ENAM (q 4, 21) that codes for enameline (AD)

-        MMP20 (q 11, 22.3 - q23) that codes for the extracellular protein matrix

-        KLK4 (19q 13.3 - q13.4) that codes for kallikrein 4

-        WDR72 (15q21.3)

-        FAM83H (8q24.3)

-        DLX3 (q 17, 21.3 - q22)

There are different forms:

-        hypoplastic: thin or absent enamel

-        hypomineralized: soft, brown or yellow enamel

-        hypomature: normal thickness enamel  but with abnormal coloration from chalky white to yellow brown.

Teeth may be discoloured, very sensitive or fragile (cavities). The involvement can be isolated or associated with syndromes as: nephrocalcinosis, platyspondyly, dystrophy of the cones and rods (CNNM4 gene), onycholysis, epilepsy (Kohlschutter-Tonz syndrome), deafness and abnormalities of the nails (Heimler syndrome), tricho-dento-osseous syndrome (DLX3 gene).

Anesthetic implications: 

fragile teeth

References : 

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Updated: April 2018