DISEASE: Congenital deafness with inner ear agenesis, microtia, and microdontia
Entry
H02286 Disease
Name
Congenital deafness with inner ear agenesis, microtia, and microdontia; Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM)
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2H Syndromic genetic deafness
H02286 Congenital deafness with inner ear agenesis, microtia, and microdontia
Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M
Title
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
