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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):
- 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: -
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.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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