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Otodental syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Osteoglophonic dwarfism

1 OMIM reference -
1 associated gene
20 signs/symptoms

Otodental syndrome

Osteoglophonic dwarfism

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGF3	(0.52)	FGFR1

Citations in the biomedical literature:

Otodental syndrome		Osteoglophonic dwarfism
	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: - Average age onset: - 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: C536050


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Anteverted nares / nostrils - Autosomal dominant inheritance - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears

Otodental syndrome		Osteoglophonic dwarfism
	Very frequent - Tooth shape anomaly Frequent - 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 - Cataract / lens opacification - Coloboma of iris - Coloboma of the lens - Heterochromia / mixed colouring of iris - High vaulted / narrow palate - Long philtrum - Microcornea - Pigmented naevi / naevus pigmentosus / lentigo - Retinoschisis / retinal / chorioretinal coloboma - Supernumerary teeth / polyodontia		Very frequent - Abnormal vertebral size / shape - Craniostenosis / craniosynostosis / sutural synostosis - Hypertelorism - Short stature / dwarfism / nanism Frequent - Clavicle absent / abnormal - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Rhizomelic micromelia Occasional - Abnormal / absent ossification - Choanal atresia - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Short hand / brachydactyly - Undescended / ectopic testes / cryptorchidia / unfixed testes