Disorder "Deafness With Labyrinthine Aplasia, Microtia, And Microdontia"
Found 1 record
Disorder information
Disorder name:
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Disoder ID:
OMIM entry:
Synonyms:
LAMM syndrome, Microdontia-type I microtia-deafness syndrome
Definition:
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). Rarely, affected individuals have some underdeveloped inner ear structures in one or both ears. The abnormalities of the inner ear cause a form of hearing loss called sensorineural deafness that is present from birth (congenital). Because the inner ear is important for balance as well as hearing, development of motor skills, such as sitting and crawling, may be delayed in affected infants. In addition, people with LAMM syndrome often have abnormally small outer ears (microtia) with narrow ear canals. They can also have unusually small, widely spaced teeth (microdontia).
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| FGF3 | FGF3:c.283C>T(p.Arg95Trp) | Expressivity | Risk factor | Pedigree analysis | We noted a less prominent dental and external ear phenotype in association with the homozygous p.R95Wmore | more |
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