Preferred Label : Deafness – enamel hypoplasia – nail defects;
ICD-11 definition : This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia
of the permanent dentition with normal primary dentition, and nail defects (Beau's
lines and leukonychia). Less than 10 patients have been described so far. Transmission
is autosomal recessive.;
ICD-11 synonym : Heimler syndrome; Sensorineural hearing loss with enamel hypoplasia and nail defects;
Origin ID : 1277620176;
Automatic exact mappings (from CISMeF team)
This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia
of the permanent dentition with normal primary dentition, and nail defects (Beau's
lines and leukonychia). Less than 10 patients have been described so far. Transmission
is autosomal recessive.
