Deafness with labyrinthine aplasia, microtia, and microdontia
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Summary
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. It has been described in 6 families to date. 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. Transmission is autosomal recessive. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13).
Last update: November 2010
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