MCID: DFN358
MIFTS: 26

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia

Categories: Genetic diseases, Ear diseases, Fetal 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 73
Lamm Syndrome 24 25 59
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 24 25
Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia 57 13
Deafness with Lamm 57 25
Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia 57
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 25
Congenital Deafness with Inner Ear Agenesis, Microtia and Microdontia 75
Deafness, Congenital, Inner Ear Agenesis, Microtia, and Microdontia 40
Congenital Deafness with Inner Ear Agenesis, Microtia,microdontia 24
Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 59
Deafness with Labyrinthine Aplasia, Microtia and Microdontia 75
Microdontia-Type I Microtia-Deafness Syndrome 59
Lamm 75

Characteristics:

Orphanet epidemiological data:

59
deafness with labyrinthine aplasia, microtia, and microdontia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 : 25 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 hypertelorism and widely spaced teeth

UniProtKB/Swiss-Prot : 75 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 11.7
2 microtia 10.5

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 widely spaced teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000687
3 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
4 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
5 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
6 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
7 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
8 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
9 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
10 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
11 increased number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0011069
12 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
13 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
14 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
15 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
16 tall stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0000098
17 prominent nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000448
18 skin tags 59 32 occasional (7.5%) Occasional (29-5%) HP:0010609
19 abnormality of the cranial nerves 59 32 hallmark (90%) Very frequent (99-80%) HP:0001291
20 conical tooth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000698
21 aplasia of the inner ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0011372
22 hearing impairment 59 Very frequent (99-80%)
23 high-grade hypermetropia 59 Occasional (29-5%)
24 delayed gross motor development 32 HP:0002194
25 anteverted ears 32 HP:0040080
26 high hypermetropia 32 occasional (7.5%) HP:0008499
27 profound sensorineural hearing impairment 32 HP:0011476
28 microtia, first degree 32 HP:0011266

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:

41
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
Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. ( 25432227 )
2014
2
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. ( 21480479 )
2011
3
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:

75
# 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 rs281860303 GRCh37 Chromosome 11, 69631129: 69631129
22 FGF3 NM_005247.2(FGF3): c.283C> T (p.Arg95Trp) single nucleotide variant 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 GRCh37 Chromosome 11, 69631142: 69631142
26 FGF3 NM_005247.2(FGF3): c.270dupT (p.Leu91Serfs) duplication Pathogenic 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...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....