LAMM
MCID: DFN358
MIFTS: 34

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 57 70
Lamm Syndrome 25 20 43 58
Deafness with Labyrinthine Aplasia Microtia and Microdontia 20 29 6
Deafness with Lamm 57 20 43
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 25 43
Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia 57 13
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 43 36
Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia 57
Congenital Deafness with Inner Ear Agenesis, Microtia and Microdontia 72
Congenital Deafness with Inner Ear Agenesis Microtia and Microdontia 20
Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia 20
Deafness, Congenital, Inner Ear Agenesis, Microtia, and Microdontia 39
Congenital Deafness with Inner Ear Agenesis, Microtia, Microdontia 25
Hearing Loss with Labyrinthine Aplasia, Microtia, and Microdontia 58
Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 58
Deafness with Labyrinthine Aplasia, Microtia and Microdontia 72
Microdontia-Type I Microtia-Hearing Loss Syndrome 58
Microdontia-Type I Microtia-Deafness Syndrome 58
Lamm 72

Characteristics:

Orphanet epidemiological data:

58
deafness with labyrinthine aplasia, microtia, and microdontia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
deafness, congenital, with inner ear agenesis, microtia, and microdontia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 610706
KEGG 36 H02286
MESH via Orphanet 45 C548011
ICD10 via Orphanet 33 Q16.5
UMLS via Orphanet 71 C1853144 C2932664
Orphanet 58 ORPHA90024
MedGen 41 C1853144
UMLS 70 C1853144

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

MedlinePlus Genetics : 43 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 microtia and branchiootic syndrome 1. An important gene associated with Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia is FGF3 (Fibroblast Growth Factor 3). Affiliated tissues include eye and skin, and related phenotypes are widely spaced teeth and microtia

KEGG : 36 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.

UniProtKB/Swiss-Prot : 72 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).

More information 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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 microtia 30.1 LOC109115964 FGF3
2 branchiootic syndrome 1 10.6
3 skin tag 10.5
4 strabismus 10.4
5 ataxia and polyneuropathy, adult-onset 10.4
6 neurodegeneration due to cerebral folate transport deficiency 10.4
7 mechanical strabismus 10.4
8 hypotonia 10.4
9 seizure disorder 10.4
10 bladder cancer 10.0
11 otodental dysplasia 10.0
12 otitis media 10.0
13 hypophosphatemic rickets, x-linked recessive 10.0
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
15 rickets 10.0

Graphical network of the top 20 diseases related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:



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

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

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

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 widely spaced teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000687
2 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
5 abnormal cranial nerve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001291
6 conical tooth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000698
7 aplasia of the inner ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0011372
8 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
9 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
10 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
11 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
12 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
13 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
14 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
15 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
16 increased number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0011069
17 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
18 high hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008499
19 tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0000098
20 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
21 prominent nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000448
22 skin tags 58 31 occasional (7.5%) Occasional (29-5%) HP:0010609
23 hearing impairment 58 Very frequent (99-80%)
24 delayed gross motor development 31 HP:0002194
25 anteverted ears 31 HP:0040080
26 profound sensorineural hearing impairment 31 HP:0011476
27 microtia, first degree 31 HP:0011266

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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...

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

# Genetic test Affiliating Genes
1 Deafness with Labyrinthine Aplasia Microtia and Microdontia (lamm) 29 FGF3

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:

40
Eye, Skin

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

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

(show all 21)
# Title Authors PMID Year
1
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. 6 57 25 61
21480479 2011
2
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). 25 57 6
18701883 2009
3
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. 57 25 6
18435799 2008
4
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. 6 25 57
17236138 2007
5
LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings. 61 25
30433887 2019
6
Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. 25 61
25432227 2014
7
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). 61 25
21752681 2011
8
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. 61 25
21306635 2011
9
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. 25 61
19950373 2010
10
Michel's anomaly, type I microtia and microdontia. 57
2044484 1991
11
Pediatric pedestrian injuries: emergency care considerations. 25
18090111 2007
12
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. 25
17656375 2007
13
Differential requirements for FGF3, FGF8 and FGF10 during inner ear development. 25
17601531 2007
14
Fgf signaling is required for zebrafish tooth development. 25
15355794 2004
15
Fgf3 and Fgf10 are required for mouse otic placode induction. 25
12810586 2003
16
Injury prevention for children with disabilities. 25
12465566 2002
17
Associations of FGF-3 and FGF-10 with signaling networks regulating tooth morphogenesis. 25
11066089 2000
18
Induction of inner ear fate by FGF3. 25
10769226 2000
19
Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss. 61
33552643 2021
20
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases. 61
31336982 2019
21
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 61
22993869 2012

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

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

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF3 NM_005247.4(FGF3):c.466T>C (p.Ser156Pro) SNV Pathogenic 13837 rs121917703 GRCh37: 11:69625327-69625327
GRCh38: 11:69810559-69810559
2 FGF3 NM_005247.4(FGF3):c.310C>T (p.Arg104Ter) SNV Pathogenic 13838 rs121917704 GRCh37: 11:69631102-69631102
GRCh38: 11:69816334-69816334
3 FGF3 NM_005247.4(FGF3):c.616del (p.Val206fs) Deletion Pathogenic 13839 rs281860305 GRCh37: 11:69625177-69625177
GRCh38: 11:69810409-69810409
4 LOC109115964 , FGF3 NM_005247.4(FGF3):c.196G>T (p.Gly66Cys) SNV Pathogenic 13840 rs121917705 GRCh37: 11:69633506-69633506
GRCh38: 11:69818738-69818738
5 LOC109115964 , FGF3 NM_005247.4(FGF3):c.17T>C (p.Leu6Pro) SNV Pathogenic 13841 rs121917706 GRCh37: 11:69633685-69633685
GRCh38: 11:69818917-69818917
6 FGF3 NM_005247.4(FGF3):c.255del (p.Ile85fs) Deletion Pathogenic 13842 rs281860302 GRCh37: 11:69631157-69631157
GRCh38: 11:69816389-69816389
7 LOC109115964 , FGF3 NM_005247.4(FGF3):c.146A>G (p.Tyr49Cys) SNV Pathogenic 29816 rs281860300 GRCh37: 11:69633556-69633556
GRCh38: 11:69818788-69818788
8 FGF3 NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys) SNV Pathogenic 29817 rs281860306 GRCh37: 11:69631095-69631095
GRCh38: 11:69816327-69816327
9 FGF3 NM_005247.4(FGF3):c.455_456TG[1] (p.Trp153fs) Microsatellite Pathogenic 29818 rs281860307 GRCh37: 11:69625335-69625336
GRCh38: 11:69810567-69810568
10 LOC109115964 , FGF3 NM_005247.4(FGF3):c.150C>A (p.Cys50Ter) SNV Pathogenic 38384 rs281860301 GRCh37: 11:69633552-69633552
GRCh38: 11:69818784-69818784
11 FGF3 NM_005247.4(FGF3):c.394del (p.Arg132fs) Deletion Pathogenic 38386 rs281860304 GRCh37: 11:69625399-69625399
GRCh38: 11:69810631-69810631
12 FGF3 NM_005247.4(FGF3):c.270dup (p.Leu91fs) Duplication Pathogenic 417891 rs1554981083 GRCh37: 11:69631141-69631142
GRCh38: 11:69816373-69816374
13 FGF3 NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) SNV Pathogenic 38385 rs281860303 GRCh37: 11:69631129-69631129
GRCh38: 11:69816361-69816361
14 FGF3 NM_005247.4(FGF3):c.462C>G (p.Tyr154Ter) SNV Likely pathogenic 627444 rs782712529 GRCh37: 11:69625331-69625331
GRCh38: 11:69810563-69810563
15 LOC109115964 , FGF3 NM_005247.4(FGF3):c.100G>T (p.Gly34Cys) SNV Uncertain significance 426706 rs1039515359 GRCh37: 11:69633602-69633602
GRCh38: 11:69818834-69818834

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

72
# Symbol AA change Variation ID SNP ID
1 FGF3 p.Ser156Pro VAR_031848 rs121917703
2 FGF3 p.Leu6Pro VAR_060492 rs121917706

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...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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