Congenital deafness with inner ear agenesis, microtia, and microdontia

Definition:

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a new, rare, autosomal recessive deafness syndrome. This syndrome has been linked to mutations in the FGF3 gene. Fibroblast growth factor (FGF) signals are required for expression of otic placode genes and for otic placode induction and vesicle formation.

References:

[1]. Alberto Sensi, et al. LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am J Med Genet A. 2011 May;155A(5):1096-101. [Content Brief]

[2]. Osama Alsmadi, et al. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet. 2009 Jan;17(1):14-21. [Content Brief]

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