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Otodental syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Jackson-Weiss syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Otodental syndrome

Jackson-Weiss syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Otodental syndrome		Jackson-Weiss syndrome
	Synonym(s): - Globodontia - Otodental dysplasia		Synonym(s): - Craniosynostosis - midfacial hypoplasia - foot abnormalities - JWS

	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: <1 / 1 000 000 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: C537559


COMMON SIGNS	- Autosomal dominant inheritance - High vaulted / narrow palate

Otodental syndrome		Jackson-Weiss 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 - 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 - Long philtrum - Microcornea - Micrognathia / retrognathia / micrognathism / retrognathism - Pigmented naevi / naevus pigmentosus / lentigo - Prominent / bat ears - Retinoschisis / retinal / chorioretinal coloboma - Supernumerary teeth / polyodontia		Very frequent - Broad / bifid big toe - Hypertelorism - Mid-facial hypoplasia / short / small midface - Syndactyly of toes - Tarsal anomaly / fusion / synostosis - Turricephaly / oxycephaly / acrocephaly Frequent - Beaked nose - Flat supraorbital ridge - Frontal bossing / prominent forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Prognathism / prognathia - Proptosis / exophthalmos - Ptosis - Strabismus / squint Occasional - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Oligodactyly / ectrodactyly of toes - Preaxial polydactyly of toes / big toe duplication - Symphalangy of fingers - Syndactyly of fingers / interdigital palm