Search for a rare disease
Other search option(s)
Deafness with labyrinthine aplasia, microtia, and microdontia
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.
ORPHA:90024Classification level: Disorder
- Hearing loss with labyrinthine aplasia, microtia, and microdontia
- LAMM syndrome
- Microdontia-type I microtia-deafness syndrome
- Microdontia-type I microtia-hearing loss 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: -
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.
Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13).
Transmission is autosomal recessive.
- Clinical genetics review
- English (2019)