Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.
Epidemiology
It has been described in 6 families to date.
Clinical description
The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia); microtia type I with small auricle and narrow external auditory canal; and microdontia with widely spaced teeth.
Etiology
Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13).
Genetic counseling
Transmission is autosomal recessive.