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Otodental syndrome
1 OMIM reference -
1 associated gene
25 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Crouzon disease
1 OMIM reference -
2 associated genes
32 signs/symptoms
Otodental syndrome
Crouzon disease

FGF3
(UniProt - OMIM)
 ERF
(UniProt - OMIM)
FGFR2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FGF3
(0.65)
FGFR2


Citations in the biomedical literature:


Otodental syndrome
FGF3
Crouzon disease
ERF FGFR2



Otodental syndrome
Crouzon disease

Synonym(s):
- Globodontia
- Otodental dysplasia
Synonym(s):
- Crouzon craniofacial dysostosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
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
- Coloboma of iris
- High vaulted / narrow palate
- Pigmented naevi / naevus pigmentosus / lentigo

Otodental syndrome
Crouzon disease

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 the lens
- Heterochromia / mixed colouring of iris
- Long philtrum
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Retinoschisis / retinal / chorioretinal coloboma
- Supernumerary teeth / polyodontia


Very frequent
- Craniostenosis / craniosynostosis / sutural synostosis
- Facial dysmorphism
- Frontal bossing / prominent forehead
- High forehead
- Skull / cranial anomalies

Frequent
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- Cranial hypertension
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Ptosis
- Strabismus / squint
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Acanthosis nigricans
- Beaked nose
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- External auditory canal atresia / stenosis / agenesis
- Facial pain / cephalalgia / migraine
- Hearing loss / hypoacusia / deafness
- Hydrocephaly
- Irregular / patchy skin hypopigmentation
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly
- Visual loss / blindness / amblyopia