LAMM
MCID: DFN358
MIFTS: 27

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (LAMM)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

MalaCards integrated aliases for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

Name: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 58 74
Lamm Syndrome 25 26 60
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 25 26
Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia 58 13
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 26 38
Deafness with Lamm 58 26
Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia 58
Congenital Deafness with Inner Ear Agenesis, Microtia and Microdontia 76
Deafness, Congenital, Inner Ear Agenesis, Microtia, and Microdontia 41
Congenital Deafness with Inner Ear Agenesis, Microtia,microdontia 25
Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 60
Deafness with Labyrinthine Aplasia, Microtia and Microdontia 76
Microdontia-Type I Microtia-Deafness Syndrome 60
Lamm 76

Characteristics:

Orphanet epidemiological data:

60
deafness with labyrinthine aplasia, microtia, and microdontia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
deafness, congenital, with inner ear agenesis, microtia, and microdontia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Genetics Home Reference : 26 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).

MalaCards based summary : Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia, also known as lamm syndrome, is related to deafness with labyrinthine aplasia microtia and microdontia and microtia. An important gene associated with Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia is FGF3 (Fibroblast Growth Factor 3). Affiliated tissues include skin, and related phenotypes are widely spaced teeth and microtia

UniProtKB/Swiss-Prot : 76 Deafness with labyrinthine aplasia, microtia and microdontia: Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia).

Description from OMIM: 610706
GeneReviews: NBK100664

Related Diseases for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Diseases related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness with labyrinthine aplasia microtia and microdontia 11.9
2 microtia 10.6
3 cerebral folate deficiency 10.5
4 rickets 10.0

Symptoms & Phenotypes for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Human phenotypes related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 widely spaced teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000687
2 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
3 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
4 microdontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000691
5 conical tooth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000698
6 aplasia of the inner ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0011372
7 abnormal cranial nerve morphology 33 hallmark (90%) HP:0001291
8 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
9 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
10 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
11 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
12 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
13 pointed chin 60 33 frequent (33%) Frequent (79-30%) HP:0000307
14 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
15 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
16 increased number of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0011069
17 hypodontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000668
18 synophrys 60 33 occasional (7.5%) Occasional (29-5%) HP:0000664
19 tall stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0000098
20 prominent nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0000448
21 skin tags 60 33 occasional (7.5%) Occasional (29-5%) HP:0010609
22 high hypermetropia 33 occasional (7.5%) HP:0008499
23 hearing impairment 60 Very frequent (99-80%)
24 high-grade hypermetropia 60 Occasional (29-5%)
25 delayed gross motor development 33 HP:0002194
26 abnormality of the cranial nerves 60 Very frequent (99-80%)
27 anteverted ears 33 HP:0040080
28 profound sensorineural hearing impairment 33 HP:0011476
29 microtia, first degree 33 HP:0011266

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
widely spaced teeth
microdontia
conical teeth

Head And Neck Ears:
anteverted ears
microtia, type i
deafness, profound congenital sensorineural
michel aplasia (complete absence of inner ear structures)
labyrinthine aplasia

Neurologic Central Nervous System:
gross motor skill delay (infancy)
stenosis of the jugular foramen
pontocerebellar arachnoid cyst (reported in 2 patients)

Head And Neck Face:
micrognathia
long face

Skin Nails Hair Skin:
skin tags on the upper part of the auricle

Clinical features from OMIM:

610706

Drugs & Therapeutics for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Search Clinical Trials , NIH Clinical Center for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia

Genetic Tests for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Anatomical Context for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

MalaCards organs/tissues related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

42
Skin

Publications for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Articles related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

# Title Authors Year
1
LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings. ( 30433887 )
2018
2
Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. ( 25432227 )
2014
3
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. ( 21480479 )
2011
4
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. ( 21306635 )
2011

Variations for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

76
# Symbol AA change Variation ID SNP ID
1 FGF3 p.Ser156Pro VAR_031848 rs121917703
2 FGF3 p.Leu6Pro VAR_060492 rs121917706

ClinVar genetic disease variations for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF3 NM_005247.2(FGF3): c.466T> C (p.Ser156Pro) single nucleotide variant Pathogenic rs121917703 GRCh37 Chromosome 11, 69625327: 69625327
2 FGF3 NM_005247.2(FGF3): c.466T> C (p.Ser156Pro) single nucleotide variant Pathogenic rs121917703 GRCh38 Chromosome 11, 69810559: 69810559
3 FGF3 NM_005247.2(FGF3): c.310C> T (p.Arg104Ter) single nucleotide variant Pathogenic rs121917704 GRCh37 Chromosome 11, 69631102: 69631102
4 FGF3 NM_005247.2(FGF3): c.310C> T (p.Arg104Ter) single nucleotide variant Pathogenic rs121917704 GRCh38 Chromosome 11, 69816334: 69816334
5 FGF3 NM_005247.2(FGF3): c.616delG (p.Val206Serfs) deletion Pathogenic rs281860305 GRCh37 Chromosome 11, 69625177: 69625177
6 FGF3 NM_005247.2(FGF3): c.616delG (p.Val206Serfs) deletion Pathogenic rs281860305 GRCh38 Chromosome 11, 69810409: 69810409
7 FGF3 NM_005247.2(FGF3): c.196G> T (p.Gly66Cys) single nucleotide variant Pathogenic rs121917705 GRCh37 Chromosome 11, 69633506: 69633506
8 FGF3 NM_005247.2(FGF3): c.196G> T (p.Gly66Cys) single nucleotide variant Pathogenic rs121917705 GRCh38 Chromosome 11, 69818738: 69818738
9 FGF3 NM_005247.2(FGF3): c.17T> C (p.Leu6Pro) single nucleotide variant Pathogenic rs121917706 GRCh37 Chromosome 11, 69633685: 69633685
10 FGF3 NM_005247.2(FGF3): c.17T> C (p.Leu6Pro) single nucleotide variant Pathogenic rs121917706 GRCh38 Chromosome 11, 69818917: 69818917
11 FGF3 NM_005247.2(FGF3): c.255delT (p.Ile85Metfs) deletion Pathogenic rs281860302 GRCh37 Chromosome 11, 69631157: 69631157
12 FGF3 NM_005247.2(FGF3): c.255delT (p.Ile85Metfs) deletion Pathogenic rs281860302 GRCh38 Chromosome 11, 69816389: 69816389
13 FGF3 NM_005247.2(FGF3): c.146A> G (p.Tyr49Cys) single nucleotide variant Pathogenic rs281860300 GRCh37 Chromosome 11, 69633556: 69633556
14 FGF3 NM_005247.2(FGF3): c.146A> G (p.Tyr49Cys) single nucleotide variant Pathogenic rs281860300 GRCh38 Chromosome 11, 69818788: 69818788
15 FGF3 NM_005247.2(FGF3): c.317A> G (p.Tyr106Cys) single nucleotide variant Pathogenic rs281860306 GRCh37 Chromosome 11, 69631095: 69631095
16 FGF3 NM_005247.2(FGF3): c.317A> G (p.Tyr106Cys) single nucleotide variant Pathogenic rs281860306 GRCh38 Chromosome 11, 69816327: 69816327
17 FGF3 NM_005247.2(FGF3): c.457_458delTG (p.Trp153Valfs) deletion Pathogenic rs281860307 GRCh37 Chromosome 11, 69625335: 69625336
18 FGF3 NM_005247.2(FGF3): c.457_458delTG (p.Trp153Valfs) deletion Pathogenic rs281860307 GRCh38 Chromosome 11, 69810567: 69810568
19 FGF3 NM_005247.2(FGF3): c.150C> A (p.Cys50Ter) single nucleotide variant Pathogenic rs281860301 GRCh37 Chromosome 11, 69633552: 69633552
20 FGF3 NM_005247.2(FGF3): c.150C> A (p.Cys50Ter) single nucleotide variant Pathogenic rs281860301 GRCh38 Chromosome 11, 69818784: 69818784
21 FGF3 NM_005247.2(FGF3): c.283C> T (p.Arg95Trp) single nucleotide variant Pathogenic/Likely pathogenic rs281860303 GRCh37 Chromosome 11, 69631129: 69631129
22 FGF3 NM_005247.2(FGF3): c.283C> T (p.Arg95Trp) single nucleotide variant Pathogenic/Likely pathogenic rs281860303 GRCh38 Chromosome 11, 69816361: 69816361
23 FGF3 NM_005247.2(FGF3): c.394delC (p.Arg132Glyfs) deletion Pathogenic rs281860304 GRCh37 Chromosome 11, 69625399: 69625399
24 FGF3 NM_005247.2(FGF3): c.394delC (p.Arg132Glyfs) deletion Pathogenic rs281860304 GRCh38 Chromosome 11, 69810631: 69810631
25 FGF3 NM_005247.2(FGF3): c.270dupT (p.Leu91Serfs) duplication Pathogenic rs1554981083 GRCh37 Chromosome 11, 69631142: 69631142
26 FGF3 NM_005247.2(FGF3): c.270dupT (p.Leu91Serfs) duplication Pathogenic rs1554981083 GRCh38 Chromosome 11, 69816374: 69816374

Expression for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Search GEO for disease gene expression data for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia.

Pathways for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

GO Terms for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

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