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1 OMIM reference -
1 associated gene
25 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
18 signs/symptoms
Otodental syndrome
Muenke syndrome

FGF3 FGFR3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF3
(0.52)
FGFR3



Citations in the biomedical literature:


Otodental syndrome
FGF3
Muenke syndrome
FGFR3



Otodental syndrome
Muenke syndrome

Synonym(s):
- Globodontia
- Otodental dysplasia

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537369


COMMON
SIGNS
- Autosomal dominant inheritance
- High vaulted / narrow palate
- Sensorineural deafness / hearing loss


Otodental syndrome
Muenke syndrome

Very frequent
- 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
- 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
- Long philtrum
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pigmented naevi / naevus pigmentosus / lentigo
- Prominent / bat ears
- Retinoschisis / retinal / chorioretinal coloboma
- Supernumerary teeth / polyodontia


Frequent
- Brachycephaly / flat occiput
- Carpal bones fusion / synostosis
- Cone epiphyses / epiphysis
- Cranial hypertension
- Hypertelorism
- Mid-facial hypoplasia / short / small midface
- Plagiocephaly
- Proptosis / exophthalmos
- Ptosis
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Tarsal anomaly / fusion / synostosis

Occasional
- Hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly