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Otodental syndrome
1 OMIM reference -
1 associated gene
36 connected diseases
25 signs/symptoms
Disease Type of connection
Deafness with labyrinthine aplasia, microtia, and microdontia
Oculootodental syndrome
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Pfeiffer syndrome type 1
Saethre-Chotzen syndrome
Giant cell glioblastoma
Gliosarcoma
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Hartsfield-Bixler-Demyer syndrome
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Isolated trigonocephaly
Kallmann syndrome
Muenke syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pilocytic astrocytoma
Septo-optic dysplasia
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Synonym(s):
- Globodontia
- Otodental dysplasia
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGF3 P11487164950
Very frequent
- Autosomal dominant inheritance
- Tooth shape anomaly

Frequent
- Anodontia / oligodontia / hypodontia
- Broad cheeks / cherub-like / cherubin face
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dental malocclusion
- Enamel anomaly
- Long face
- Sensorineural deafness / hearing loss
- 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
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pigmented naevi / naevus pigmentosus / lentigo
- Prominent / bat ears
- Retinoschisis / retinal / chorioretinal coloboma
- Supernumerary teeth / polyodontia