ODCs

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Otodental syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 5

Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

Otodental syndrome

Cutis gyrata - acanthosis nigricans - craniosynostosis

FGF3	(UniProt - OMIM)		FGFR2	(UniProt - OMIM)
			FGFR3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGF3 FGF3	(0.65) (0.52)	FGFR2 FGFR3

Citations in the biomedical literature:

Otodental syndrome		Cutis gyrata - acanthosis nigricans - craniosynostosis
	Synonym(s): - Globodontia - Otodental dysplasia		Synonym(s): - Beare-Stevenson cutis gyrata syndrome

	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 - Rare skin 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 - No MeSH references


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Anteverted nares / nostrils - Autosomal dominant inheritance - High vaulted / narrow palate - Pigmented naevi / naevus pigmentosus / lentigo

Otodental syndrome		Cutis gyrata - acanthosis nigricans - craniosynostosis
	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 - Long philtrum - Microcornea - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Retinoschisis / retinal / chorioretinal coloboma - Supernumerary teeth / polyodontia		Very frequent - Acanthosis nigricans - Anomalies of ear and hearing - Anomalies of skin, subcutaneous tissue and mucosae - Choanal atresia - Depressed nasal bridge - Depressed premaxillary region / midface - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Face / facial anomalies - Flat cheek bones / malar hypoplasia - Long / large ear - Mid-facial hypoplasia / short / small midface - Palmoplantar hyperkeratosis / keratoderma - Proptosis / exophthalmos - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Skull / cranial anomalies - Small / hypoplastic / adherent / absent ear lobe - Structural anomalies of the pancreas - Subcutaneous nodules / lipomas / tumefaction / swelling - Turricephaly / oxycephaly / acrocephaly - Visceral angiomatosis (excluding skin) Frequent - Bifid scrotum - Craniostenosis / craniosynostosis / sutural synostosis - Horizontal folds on scrotum Occasional - Anomalies of eyes and vision - Anus ectopia / anteposition / malposition - Chronic arterial hypertension - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Helix thickened / sculpted - Hydrocephaly - Hypertelorism - Microstomia / little mouth - Nails anomalies - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes