Heimler syndrome

Prevalence < 1.106. Autosomal recessive transmission of mutations in the gene:

-        PEX1 on 7q21.2 [MIM 234 580] in case of type 1

-        PEX6 on 6p21.1 [MIM 616 617] in case of type 2

Association of:

-        sensorineural deafness

-        permanent teeth enamel hypoplasia

-        abnormalities of the nails: Beau lines, leuconychia

Anesthetic implications:

fragile teeeth, deafness


References :


Updated: May 2018