[MIM 189 500]

(tooth and nail syndrome, hypodontia-nail dysplasia syndrome, ectodermal dysplasia syndrome type 3)

Prevalence estimated at 1-2/10,000. Autosomal dominant transmission of a mutation of the MSX1 gene on 4p16.2. Originally described in the Dutch Mennonite community in Canada.

Association:

• ectodermal dysplasia which especially affects teeth and nails but spares the sweat glands (there is so no intolerance to heat):
• thin and fragile nails, often spoon shaped (koilonychia), especially at the level of the toes; improves at adulthood
• persistence of deciduous teeth and absence of certain permanent teeth that causes an eversion of the lips
• a cleft lip and/or palate

Anesthetic implications:

cleft lip or lip palate, fragile teeth

References:

Updated: August 2018