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Otodental syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
45 signs/symptoms

Otodental syndrome

Apert 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		Apert syndrome
	Synonym(s): - Globodontia - Otodental dysplasia		Synonym(s): - ACS1 - Acrocephalosyndactyly type 1

	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 - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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 / 100 000 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 - 1 MeSH reference: D000168


COMMON SIGNS	- Autosomal dominant inheritance - Delayed dentition / eruption of teeth / lack of eruption of teeth - High vaulted / narrow palate - Sensorineural deafness / hearing loss

Otodental syndrome		Apert syndrome
	Very frequent - Tooth shape anomaly Frequent - Anodontia / oligodontia / hypodontia - Broad cheeks / cherub-like / cherubin face - Dental malocclusion - Enamel anomaly - Long face - 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 - Brachycephaly / flat occiput - Conductive deafness / hearing loss - Depressed nasal bridge - Flat face - Frontal bossing / prominent forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Proptosis / exophthalmos - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Turricephaly / oxycephaly / acrocephaly Frequent - Beaked nose - Broad / bifid thumb - Chronic arterial hypertension - Corpus callosum / septum pellucidum total / partial agenesis - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Prognathism / prognathia - Strabismus / squint - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Thumb hypoplasia / aplasia / absence - Vertebral segmentation anomaly / hemivertebrae Occasional - Anus ectopia / anteposition / malposition - Arnold-Chiari anomaly - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cloverleaf skull - Congenital cardiac anomaly / malformation / cardiopathy - Corneal ulceration / perforation - Dilated cerebral ventricles without hydrocephaly - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hydrocephaly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Ovary / ovarian teratoma / germinoma - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Visual loss / blindness / amblyopia