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FGFR2-related bent bone dysplasia

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Otodental syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

FGFR2-related bent bone dysplasia

Otodental syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

FGFR2-related bent bone dysplasia		Otodental syndrome
	Synonym(s): - Perinatal lethal bent bone dysplasia		Synonym(s): - Globodontia - Otodental dysplasia

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the digestive system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - 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

Otodental syndrome
	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
FGFR2-related bent bone dysplasia
(no data available)