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last update : 15-09-2012
Symbol CDMM
Location 11q13
Name congenital deafness with inner ear agenesis (Michel aplasia), microtia, and microdontia
Other name(s)
  • LAMM syndrome ( labyrinthine aplasia, microtia, and microdontia)
  • Corresponding gene FGF3
    Other symbol(s) LAMM
    Main clinical features profound congenital sensorineural deafness, type I microtia with shortening of auricles above the crura of the antihelix, and microdontia with widely spaced teeth and anteverted ears
    Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder ear
    Type malformation
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function substitutes an uncharged polar side chain amino acid, serine, with a nonpolar side chain residue, proline, at codon 156