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Deafness with labyrinthine aplasia, microtia, and microdontia

Disease definition

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

ORPHA:90024

Classification level: Disorder
  • Synonym(s):
    • LAMM syndrome
    • Microdontia-type I microtia-deafness syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q16.5
  • OMIM: 610706
  • UMLS: C1853144  C2932664
  • MeSH: C548011
  • GARD: 10707
  • MedDRA: -

Summary

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.

- Last update: November 2010

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