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Otodental syndrome
1 OMIM reference -
1 associated gene
25 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 6
Deafness with labyrinthine aplasia, microtia, and microdontia
1 OMIM reference -
1 associated gene
24 signs/symptoms
Otodental syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia

FGF3
(UniProt - OMIM)
 FGF3
(UniProt - OMIM)

COMMON
GENES 		FGF3


Citations in the biomedical literature:


Otodental syndrome
FGF3
Deafness with labyrinthine aplasia, microtia, and microdontia



Otodental syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia

Synonym(s):
- Globodontia
- Otodental dysplasia
Synonym(s):
- LAMM syndrome
- Microdontia - type I microtia - deafness
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C548011
COMMON
SIGNS 		- Anodontia / oligodontia / hypodontia
- Long face
- Micrognathia / retrognathia / micrognathism / retrognathism
- Sensorineural deafness / hearing loss
- Supernumerary teeth / polyodontia
- Tooth shape anomaly

Otodental syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia

Very frequent
- Autosomal dominant inheritance

Frequent
- Broad cheeks / cherub-like / cherubin face
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dental malocclusion
- Enamel anomaly
- Taurodontia
- Thickened / hypertrophic / fibromatous gingivae

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anteverted nares / nostrils
- Cataract / lens opacification
- Coloboma of iris
- Coloboma of the lens
- Heterochromia / mixed colouring of iris
- High vaulted / narrow palate
- Long philtrum
- Microcornea
- Pigmented naevi / naevus pigmentosus / lentigo
- Prominent / bat ears
- Retinoschisis / retinal / chorioretinal coloboma


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Autosomal recessive inheritance
- Complete / partial microdontia
- Cranial nerve anomalies
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals

Frequent
- Broad nasal root
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Pointed chin
- Small / triangular nares / nostrils

Occasional
- Bifid / cleft ear lobe / ear lobe pits
- Hypermetropia
- Hypertelorism
- Long / large / bulbous nose
- Preauricular / branchial tags / appendages
- Strabismus / squint
- Synophris / synophrys
- Tall stature / gigantism / growth acceleration