ORPHA:90024
Deafness with labyrinthine aplasia, microtia, and microdontia
Synonyms: Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome · Microdontia-type I microtia-deafness syndrome · Microdontia-type I microtia-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness with labyrinthine aplasia, microtia, and microdontia | Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome · Microdontia-type I microtia-deafness syndrome · Microdontia-type I microtia-hearing loss syndrome |
| fr | Surdité avec aplasie du labyrinthe, microtie et microdontie | Syndrome LAMM · Syndrome de microdontie-microtie type 1-surdité |
| de | Schwerhörigkeit mit Labyrinthaplasie - Mikrotie - Mikrodontie | LAMM-Syndrom · Mikrodontie - Typ I Mikrotie - Taubheit |
| es | Sordera con aplasia del laberinto, microtia y microdoncia | Hipoacusia con aplasia del laberinto, microtia y microdoncia · Síndrome LAMM · Síndrome de microdoncia-microtia tipo 1-hipoacusia · Síndrome de microdoncia-microtia tipo 1-sordera |
| it | Sordità con aplasia labirintica, microtia e microdontia | Microdontia - microtia tipo 1 - sordità · Sindrome LAMM |
| nl | Doofheid met aplasie van labyrint, microtie en microdontie | Gehoorverlies met aplasie van labyrint, microtie en microdontie · LAMM-syndroom · Microdontie - type I microtie - doofheid-syndroom · Microdontie - type I microtie - gehoorverlies-syndroom |
| pt | Surdez com aplasia do labirinto, microtia e microdontia | Perda auditiva com aplasia do labirinto, microtia e microdontia · Síndrome LAMM · Síndrome de microdontia-microtia tipo I-perda auditiva · Síndrome de microdontia-microtia tipo I-surdez |
| pl | Głuchota z aplazją tętnicy błędnika, mikrotią i mikrodoncją | Mikrodoncja - mikrotia typu 1 - głuchota · Zespół LAMM |
| cs | Hluchota s aplázií labyrintu, mikrocií a mikrodoncií | LAMM syndrom · Syndrom zahrnující mikrodoncii, mikrocii typu I a hluchotu |
| uk | Глухота з лабіринтовою аплазією, мікротією та мікродонтією | Втрата слуху при лабіринтовій аплазії, мікротії та мікродонтії · Синдром LАММ · Синдром мікротія-глухоти I типу · Синдром мікроприглухуватості з мікротією I типу |
| zh | 耳聋伴迷路发育不全小耳和小牙 | 耳聋伴迷路发育不全、小耳畸形和小牙症 |
| tr | Labirent aplazisi, mikroti ve mikrodonti ile seyreden sağırlık | LAMM sendromu · Mikrodonti-tip I mikroti-sağırlık sendromu · Microdonti-tip I mikroti-işitme kaybı sendromu · Labirent aplazisi, mikroti ve mikrodonti ile seyreden işitme kaybı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610706 | E | validated | |
| ICD-10 | Q16.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0012541 | E | validated | |
| MeSH | C565195 | E | validated | |
| UMLS | C1853144 | E | validated | |
| GARD | 10707 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3681 | ENSG00000186895 | 164950 | 11q13.3 | fibroblast growth factor 3 | 22993869[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 56 cases | Worldwide | Case(s) | Validated | 22993869[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22993869[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0011372 | Aplasia of the inner ear | |
| HP:0000698 | Conical tooth | |
| HP:0000365 | Hearing impairment | |
| HP:0000691 | Microdontia | |
| HP:0008551 | Microtia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000687 | Widely spaced teeth | |
| Frequent (79-30%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000276 | Long face | |
| HP:0000347 | Micrognathia | |
| HP:0000307 | Pointed chin | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0008499 | High hypermetropia | |
| HP:0000316 | Hypertelorism | |
| HP:0000668 | Hypodontia | |
| HP:0000448 | Prominent nose | |
| HP:0010609 | Skin tags | |
| HP:0000486 | Strabismus | |
| HP:0011069 | Supernumerary tooth | |
| HP:0000664 | Synophrys | |
| HP:0000098 | Tall stature | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 22993869[PMID]_18435799[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90024
- This record as JSON: /data/d/90024.json