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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Isolated plagiocephaly
Otodental syndrome

FGFR3 FGF3
TCF12


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Otodental syndrome
FGF3



Isolated plagiocephaly
Otodental syndrome

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

Synonym(s):
- Globodontia
- Otodental dysplasia

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

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

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
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
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Isolated plagiocephaly
Otodental syndrome

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

Occasional
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


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
- 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